Morphometry And Histology Of Gonads From 13 Children With Dysgenetic Male Pseudohermaphroditism

Background. - Dysgenetic male pseudohermaphroditism (DMP) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent müllerian structures, and cryptorchidism in individuals with a 46,XY karyotype. However, the histologic criteria for the diagnosis of DMP are poorly established. Objective. - To determine gonadal histology in children with DMP. Patients and Methods. - Between 1996 and 1998, 13 patients with DMP were evaluated on our service. The clinical diagnosis of DMP was based on a 46,XY karyotype, sex ambiguity, high levels of follicle-stimulating hormone and low levels Of antimüllerian hormone, a decreased testosterone response to human chorionic gonadotropin stimulation without accumulation of testosterone precursors, and the presence of müllerian structures. Molecular sequencing the HMGbox region of the SRY gene did not reveal any mutations. Biopsies were performed for 22 of 26 gonads (patient age at the time of biopsy, 16 months to 10 years). Conventional microscopy was used to evaluate mean tubular diameter, tubular fertility index, and number of Sertoli cells per tubular profile. Results. - All 26 gonads were located outside of the labioscrotal folds. Their histologic features varied from only a reduction in tubular size to features of a streak gonad. Five of the 22 gonads grossly resembled a streak gonad. The mean tubular diameter was severely reduced (>30% reduction relative to the normal tubular diameter for the patient's age) in 4 gonads, markedly reduced (10%-30%) in 11 gonads, slightly reduced (<10%) in one gonad, and normal in one gonad. The tubular fertililty index, expressed as the percentage of tubular profiles containing germ cells, was severely reduced (<30% of normal values) in 9 gonads, markedly reduced (50%-30%) in 2 gonads, and normal in 6 gonads. The number of Sertoli cells per tubular profile was elevated in 16 gonads and normal in one gonad. Thin tubules surrounded by fibrous tissue were occasionally observed. Conclusion. - The histologic findings confirmed the clinical diagnosis of DMP in every patient in the present series. However, gonadal histology was variable, and careful morphometric evaluation may be necessary to establish the diagnosis.1255652656Robboy, S.J., Miller, T., Donahoe, P.K., Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: Perspective derived from clinicopathologic analysis of twenty-one cases (1982) Hum Pathol, 13, pp. 700-716Troche, V., Hernandez, E., Neoplasia arising in dysgenetic gonads (1986) Obstet Gynecol Surv, 41, pp. 74-79Krasna, I.H., Lee, M.L., Smilow, P., Sciorra, L., Eierman, L., Risk of malignancy in bilateral streak gonads: The role of the Y chromosome (1992) J Pediatr Surg, 27, pp. 1376-1380Rohatgi, M., Gupta, D.K., Menon, P.S., Verma, I.C., Mathur, M., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism - A critical analysis (1992) Indian J Pediatr, 59, pp. 487-500Rey, R.A., Belville, C., Nhou-Fékété, C., Evaluation of gonadal function in 107 intersex patients by means of serum antimüllerian hormone measurement (1999) J Clin Endocrinol Metab, 84, pp. 627-631Stuchi-Perez, E.G., Lukas-Croisier, C., Castro, M., Evaluation of the tubular and interstitial functions of the testis in 46,XY patients with ambiguous genitalia (2000) J Pediatr Endocrinol Metab, 13, pp. 605-612Chang, H.J., Clark, R.D., Bachman, H., The phenotype of 45,X/46,XY mosaicism: An analysis of 92 prenatally diagnosed cases (1990) Am J Hum Genet, 46, pp. 156-167Rajfer, J., Walsh, P.C., Mixed gonadal dysgenesis: Dysgenetic male pseudoher-maphroditism (1981) The Intersex Child: Pediatric and Adolescent Endocrinology, pp. 103-115. , Josso N, ed. Basel, Switzerland: S. KargerBorer, J.G., Nitti, V.W., Glassberg, K.I., Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism (1995) J Urol, 153, pp. 1267-1273Donahoe, P.K., Crawford, J.D., Hendren, W.H., Mixed gonadal dysgenesis: Pathogenesis and management (1979) J Pediatr Surg, 14, pp. 287-300Pelletier, J., Bruening, W., Kashtan, C.E., Germline mutations in the Wilms' tumor supressor gene are associated with abnormal urogenital development in Denys-Drash syndrome (1991) Cell, 67, pp. 437-1147Carré-Éusebe, D., Imbeaud, S., Harbison, M., New, M.I., Josso, N., Picard, J.Y., Variants of the anti-Müllerian hormone gene in a compound heterozygote with the persistent Müllerian duct syndrome and his family (1992) Hum Genet, 90, pp. 389-394Nistal, M., Paniagua, R., Non-neoplastic diseases of the testis (1996) Urologic Surgical Pathology, pp. 458-565. , Bostiwick DG, Eble JN, eds. St Louis, Mo: MosbyLennox, B., Ahmad, K.M., Mack, W.S., A method for determining the relative total length of the tubules in the testis (1970) J Pathol, 102, pp. 229-238Jimenez, R., Sanchez, A., Burgos, M., Dias De La Guardia, R.C., Puzzling out the genetics of mammalian sex determination (1996) Trends Genet, 12, pp. 164-166Müller, J., Skakkebaek, N.F., Quantification of germ cells and seminiferous tubules by stereological examination of testicles from 50 boys who suffered from sudden death (1983) Int J Androl, 6, pp. 143-156Cortes, D., Müller, J., Skakkebaek, N.E., Proliferation of Sertoli cells during development of the human testis assessed by stereological methods (1987) Int J Androl, 10, pp. 589-596Nistal, M., Abaurrea, M.A., Paniagua, R., Morphological and histometric study on the human Sertoli cell from birth to the onset of puberty (1982) J Anat, 14, pp. 351-363Van Niekerk, W.A., Retief, A.E., The gonads of human true hermaphrodites (1981) Hum Genet, 58, pp. 117-122Guerra Jr., G., De Mello, M.P., Assumpção, J.G., True hermaphrodites in the southeastern region of Brazil: A different cytogenetic and gonadal profile (1998) J Pediatr Endocrinol Metab, 11, pp. 519-524Quigley, C.A., De Bellis, A., Marschke, K.B., El-Awady, M.K., Wilson, E.M., French, F.S., Androgen receptor defects: Historical, clinical and molecular perspectives (1995) Endocr Rev, 16, pp. 271-32

Detection Of Gly-196-ser Mutation In 5α-reductase Type Ii Gene In A Brazilian Patient With Female Assignment And Behavior

We describe the identification of a single base mutation in the 5α- reductase type II gene in a Brazilian patient who was reared as female and remained with female behavior and sexual identity.113465466Labrie, F., Sugimoto, Y., Luu-The, V., Simard, J., Lachance, Y., Bachvarov, D., Leblanc, G., Paquet, N., Structure of human type II 5α-reductase gene (1992) Endocrinology, 131, pp. 1571-1573Russel, D.W., Wilson, J.D., Steroid 5α-reductase: Two genes/two enzymes (1994) Ann Rev Biochem, 63, pp. 25-61Thigpen, A.E., Davis, D.L., Miltovich, A., Mendonça, B.B., Imperato-McGinley, J., Griffin, J.E., Francke, U., Russel, D.W., Molecular genetics of 5α-reductase deficiency (1992) J Clin Invest, 90, pp. 799-809Katz, M.D., Cai, L.Q., Zhu, Y., Herrera, C., DeFillo-Ricart, M., Shackleton, H.L., Imperato-McGinley, J., The biochemical and phenotypic characterization of females homozygous for 5α-reductase deficiency (1995) J Clin Endocrinol Metab, 80, pp. 3160-3167Hiort, O., Willengring, H., Albers, N., Hecker, W., Engert, J., Dibbelt, L., Sinnecker, G.H.G., Molecular genetic analysis and human chorionic gonadotiopin stimulation tests in the diagnosis of prepubertal patients with partial 5α-reductase deficiency (1996) Eur J Pediatr, 155, pp. 445-451Sinnecker, G.H.G., Hiort, O., Dibbelt, L., Albers, N., Dörr, H.G., Hauss, H., Heinrich, U., Kruse, K., Phenotypic classification of male pseudohermaphroditism due to steroid 5α-reductase 2 deficiency (1996) Am J Med Genet, 63, pp. 223-23

Frequency Of 677c → T And 1298a → C Polymorphisms In The 5,10-methylenetetrahydrofolate Reductase (mthfr) Gene In Turner Syndrome Individuals

Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C → T and 1298A → C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C → T allele was 0.39 for patients and 0.29 for controls while that of the 1298A → C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (χ2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C → T/677C → T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity. Copyright by the Brazilian of Genetics.2914144Beiguelman, B., As cromossomopatias autossômicas (1982) Citogenética Humana, pp. 179-218. , Guanabara Koogan, Rio de JaneiroChadefaux-Vekemans, B., Coude, M., Muller, F., Oury, J.F., Chabli, A., Jais, J., Kamoun, P., Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome (2002) Pediatr Res, 51, pp. 766-767Chiang, P.K., Gordon, R.K., Tal, J., Zeng, G.C., Doctor, B.P., Pardhasaradhi, K., MacAnn, P.P., S-adenosylmethionine and methylation (1996) FASEB J, 10, pp. 471-480Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J., Rozen, R., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase (1995) Nat Genet, 10, pp. 111-113Goyette, P., Summer, J.S., Milos, R., Duncan, A.M.V., Rosenblatt, D.S., Matthews, R.G., Rozen, R., Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification (1994) Nat Genet, 7, pp. 195-200Hassold, T., Chromosome abnormalities in human reproductive wastage (1986) Trends Genet, 2, pp. 105-110Hassold, J.T., Burrage, L.C., Chan, E., Judis, L.M., Chwartz, S., James, S.J., Jacobs, P.A., Thomas, N.S., Maternal folate polymorphisms and the etiology of human nondisjunction (2001) Am J Hum Genet, 69, pp. 434-439Held, K.R., Kerber, S., Kaminsky, E., Singh, S., Goetz, P., Seemanova, E., Goedde, H.W., Mosaicism in 45, X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? (1992) Hum Genet, 29, pp. 94-97Hobbs, C.A., Sherman, S.L., Yi, P., Hopkins, S.E., Torts, C.P., Ne, R.J., Pogribna, M., Mes, S.J., Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome (2000) Am J Hum Genet, 67, pp. 623-630Hook, E.B., Warbuton, D., The distribution of chromosomal genotypes associated with Turner's syndrome, live birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism (1983) Hum Genet, 64, pp. 24-27James, S.J., Pogribna, M., Pogubny, I.P., Melnyk, S., Hine, R.J., Gibson, J.B., Yi, P., Gaylor, D.W., Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome (1999) Am J Clin Nutr, 70, pp. 495-501Kelly, T.E., Ferguson, J.E., Golden, W., Survival of fetuses with 45, X: An instructive case and an hypothesis (1992) Am J Med Genet, 42, pp. 825-826Petersen, M.B., Grigoriadou, M., Mikkelsen, M., Polymorphisms in genes involved in folate metabolism are not maternal risk factors for Down syndrome (2001) Am J Hum Genet, 69 (2 SUPPL.), p. 141Robinson, A., Demography and prevalence of Turner syndrome (1990) Turner Syndrome, pp. 93-99. , Rosenfeld RG and Grumbach MM (eds) Basel & Dekker, New Yorkvan der Put, N.M.J., Gabreëls, F., Stevens, E.M., Smeitink, J.A., Trijbels, F.J., Eskes, T.K., Van Den Heuvel, L.P., Blom, H.J., A second common mutation in the methylene-tetrahydrofolate reductase gene: An additional risk for neural-tube defects? (1998) Am J Hum Genet, 62, pp. 1044-1051Weisberg, G.I., Tran, P., Christensen, B., Sibani, S., Rozen, R., A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity (1998) Mol Genet Metab, 64, pp. 169-172Woodhead, J.L., Fallon, R., Figuered, H., Longdale, J., Malcon, A.D.B., Alternative methodology of gene diagnosis (1986) Human Genetic Disease - A Pratical Approach, pp. 88-124. , Daves KE (ed) IRL Press Limited, Oxfor

Turner Syndrome: The Patients's View

Objective: To identify how patients with Turner syndrome perceive their condition. Methods: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. Results: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. Conclusion: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team. Copyright © 2004 by Sociedade Brasileira de Pediatria.804309314Nielsen, J., Wohlert, M., Chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1991) Hum Genet, 87, pp. 81-83Lippe, B., Turner Syndrome (1996) Pediatric Endocrinology, pp. 387-421. , Serling MA, editor. Philadelphia: W. B. Saunders CoHall, J.G., Gilchrist, D.M., Turner syndrome and its variants (1990) Pediatr Clin North Am, 37, pp. 1421-1440Massa, G.G., Vanderschueren-Lodeweyckx, M., Age and height at diagnosis in Turner syndrome: Influence of paternal height (1991) Pediatrics, 88, pp. 1148-1152Pasquino, A.M., Passeri, F., Pucarelli, I., Segni, M., Municchi, G., Spontaneous pubertal development in Turner's syndrome (1997) J Clin Endocrinol Metab, 82, pp. 1810-1813. , Italian study group for Turner's syndromeNielsen, J., Nyborg, H., Dahl, G., (1977) Acta Jutlandica XLV Medicine Series 21, , Arhus, DenmarkSkuse, D., Percy, E., Stevenson, J., Psychosocial functioning in the Turner syndrome: A national survey (1994) Growth, Stature and Adaptation. Behavioral, Social and Cognitive Aspects of Growth Delay, pp. 15-64. , Stabler B, Underwood L, editors. Chapel Hill: The University of North CarolinaBoman, U.W., Möller, A., Albertsson-Wikland, K., Self-perception, behavior and social functioning in Swedish girls with Turner syndrome: A population-based study (2000) Göteborg Psychological Reports, 30 (5), pp. 1-12. , Göteborg University SwedenMcCauley, E., Feuillan, P., Kushner, H., Ross, J.L., Psychosocial development in adolescents with Turner syndrome (2001) J Dev Behav Pediatr, 22, pp. 360-365Brinch, M., Manthorpe, T., Short stature as a possible etiological factor in anorexia nervosa (1987) Acta Psychiatr Scand, 76, pp. 328-332Massa, G.G., Vanderschueren-Lodeweyckx, M., Malvaux, P., Linear growth in patients with Turner Syndrome: Influence of spontaneous puberty and parental height (1990) Eur J Pediatr, 149, pp. 246-250Huisman, J., Slijper, F.M.E., Sinnema, G., Akkerhuis, G.W., Brugman-Boezeman, A.T.M., Feenstra, J., Psychosocial functioning and effects of growth hormone treatment in Turner syndrome (1993) Basic and Clinical Approach to Turner Syndrome, pp. 157-161. , Hibi I, Takano K, editors. Amsterdam: Elsevier Science PublishersWilson, D.M., McCauley, E., Brown, D.R., Dudley, R., Oxandrolone therapy in constitutionally delayed growth and puberty (1995) Pediatrics, 96, pp. 1095-1100Gilmour, J., Skuse, D., Short stature - The role of intelligence in psychosocial adjustment (1996) Arch Dis Child, 75, pp. 25-31McCauley, E., Ito, J., Kay, T., Psychosocial functioning in girls with Turner's syndrome and short stature: Social skills, behavior problems, and self-concept (1986) J Am Acad Child Psychiatry, 25, pp. 105-112McCauley, E., Ross, J.L., Kushner, H., Cutler Jr., G., Self-esteem and behavior in girls with Turner syndrome (1995) J Dev Behav Pediatr, 16, pp. 82-88Swillen, A., Fryns, J.P., Kleczkowska, A., Massa, G., Vanderschueren-Lodeweyckx, M., Van Den Berghe, H., Intelligence, behavior and psychological development in Turner syndrome (1993) Genet Couns, 4, pp. 7-18McCauley, E., Sybert, V., Ehrhardt, A.A., Psychosocial adjustment of adult women with Turner syndrome (1986) Clin Genet, 29, pp. 284-290Aran, O., Galatzer, A., Kauli, R., Nagelberg, N., Robicsek, Y., Laron, Z., Social, educational and vocational status of 48 young adult females with gonodal dysgenesis (1992) Clin Endocrinol, 36, pp. 405-410. , OxfNielsen, J., Sillesen, I., Turner's syndrome in 115 Danish girls born between 1955 and 1966 (1981) Acta Jutlandica LIV Medicine Series 22, , Aarhus, DenmarkNielsen, J., What more can be done for girls and women with Turner syndrome? (1993) Basical and Clinical Approach to Turner Syndrome, pp. 169-176. , Hibi I, Takano K, editors. Amsterdam: Excerpta MedicaDowney, J., Ehrhardt, A.A., Gruen, R., Bell, J.J., Morishima, A., Psychopatology and social functioning in women with Turner syndrome (1989) J Nerv Ment Dis, 177, pp. 191-201Pavlidis, K., McCauley, E., Sybert, V., Psychosocial and sexual functioning in women with Turner syndrome (1995) Clin Genet, 47, pp. 85-89Berch, D., McCauley, E., Psychosocial functioning of individuals with sex chromosome abnormalities (1990) Psychoneuroendocrinology. Brain, Behavior and Hormonal Interactions, pp. 164-183. , Holmes C, editor. New York: Springer-VerlagRaboch, J., Kobilkova, J., Horejsi, J., Starka, L., Raboch, J., Sexual development and life of women with gonodal dysgenesis (1987) J Sex Marital Ther, 13, pp. 117-127Tang, G., Bio-psycho-social aspects of gonodal dysgenesis (1989) J Psychosom Obstet Gynecol, 10, pp. 113-119Holl, R.W., Kunze, D., Etzrodt, H., Teller, W., Heinze, E., Turner syndrome: Final height, glucose tolerance, bone density and psychosocial status in 25 adult patients (1994) Eur J Pediatr, 153, pp. 11-16Tesch, L.G., Benefits of support groups for those affected by Turner Syndrome and the associated medical community (1993) Basic and Clinical Approach to Turner Syndrome, pp. 185-192. , Hibi I, Takano K, editors. Amsterdam: Elsevier Science PublishersSylven, L., Magnusson, C., Hagenfeldt, K., Von Schoultz, B., Life with Turner syndrome: A psychosocial report from 22 middle-aged women (1993) Acta Endocrinol, 129, pp. 188-194. , Copen

Central Precocious Puberty As A Sole Manifestation Of Suprasellar Arachnoid Cyst [puberdade Precoce Central Como única Manifestação De Cisto Aracnoide Supraselar]

Objective: Arachnoid cysts (AC) are a rare finding; 10% of them are suprasellar and occur almost exclusively in children. They are frequently associated with neurological and visual manifestations. Central precocious puberty as a sole manifestation is uncommon.Case description: Girl evaluated at the age of two years and seven months. She started breast development at the age of one year and eight months, pubic and axillary hair at the age of two years, with growth velocity acceleration (13cm/year) and increased bone age (seven years and one month). On exam: weight: 22.6kg (Z+4.0), height: 106cm (Z+3.5) and puberal stage of B3P2. The GnRH stimulus test was performed (basal LH 8.3 IU/L, at 30 minutes 94.3 IU/L; FSH basal=10.1 IU/L, at 30 minutes 29.5 IU/L). Nuclear Magnetic Resonance of the skull showed a suprasellar arachnoid cyst. Others stimulation tests were performed and excluded pituitary deficiencies. Treatment with a GnRH analog was started. At the age of four years and three months, she was B3P2, with normal growth velocity and neurologic development. Comments: Central precocious puberty can be the only manifestation of AC. It is essential to establish early diagnosis and treatment. A prolonged follow up is recommended, since late pituitary dysfunctions can occur.291126129Parent, A.S., Rasier, G., Gerard, A., Heger, S., Roth, C., Mastronardi, C., Early onset of puberty: Tracking genetic and environmental factors (2005) Horm Res, 64, pp. 41-47Trivin, C., Couto-Silva, A.C., Sainte-Rose, C., Chemaitilly, W., Kalifa, C., Doz, F., Presentation and evolution of organic central precocious puberty according to the type of CNS lesion (2006) Clin Endocrinol, 65, pp. 239-245Starzyk, J., Kwiatkowski, S., Urbanowicz, W., Starzyk, B., Harasiewicz, M., Kalicka-Kasperczyk, A., Suprasellar arachnoidal cyst as a cause of precocious puberty--report of three patients and literature overview (2003) J Pediatr Endocrinol Metab, 16, pp. 447-455Herter, L.D., Golendziner, E., Flores, J.A., Becker Jr., E., Spritzer, P.M., Ovarian and uterine sonography in healthy girls between 1 and 13 years old: Correlation of findings with age and pubertal status (2002) AJR Am J Roentgenol, 178, pp. 1531-1536Güzel, A., Trippel, M., Ostertage, C.B., Suprasellar arachnoid cyst: A 20-year follow-up after stereotactic internal drainage: Case report and review of the literature (2007) Turk Neurosurg, 17, pp. 211-218Ichiyama, T., Hayashi, T., Nishikawa, M., Furukawa, S., Optic nerve hypoplasia with hypopituitarism and an arachnoid cyst (1996) Brain Dev, 18, pp. 234-235Huang, H.P., Tung, Y.C., Tsai, W.Y., Kuo, M.F., Peng, S.F., Arachnoid cyst with GnRH- dependent sexual precocity and growth hormone deficiency (2004) Pediatr Neurol, 30, pp. 143-145Longas, A.F., Mayayo, E., Labarta, J.L., Congenital growth hormone deficiency arising from central cranial malformations: Experience in KIGS (1999) Growth Hormone Therapy In KIGS - 10 Years' Experience, pp. 135-146. , In: Ranke M, Wilton P, editors, Leipizig: JAB VerlagMohn, A., Schoof, E., Fahlbusch, R., Wenzel, D., Dörr, H.G., The endocrine spectrum of arachnoid cysts in childhood (1999) Pediatr Neurosurg, 31, pp. 316-321Adan, L., Bussières, L., Dinand, V., Zerah, M., Pierre-Kahn, A., Brauner, R., Growth, puberty and hypothalamic-pituitary function in children with suprasellar arachnoid cyst (2000) Eur J Pediatr, 159, pp. 348-355Rivarola, M.A., Belgorosky, A., Mendilaharzu, H., Vidal, G., Precocious puberty in children with tumours of the suprasellar and pineal areas: Organic central precocious puberty (2001) Acta Paediatr, 90, pp. 751-756Golash, A., Mitchell, G., Mallucci, C., May, P., Pilling, D., Prenatal diagnosis of suprasellar arachnoid cyst and postnatal endoscopic treatment (2001) Childs Nerv Syst, 17, pp. 739-742Fujimura, J., Shima, Y., Arai, H., Ogawa, R., Fukunaga, Y., Management of a suprasellar arachnoid cyst identified using prenatal sonography (2006) J Clin Ultrasound, 34, pp. 92-94Ersahin, Y., Kesikci, H., Rüksen, M., Aydin, C., Mutluer, S., Endoscopic treatment of suprasellar arachnoid cysts (2008) Childs Nerv Syst, 24, pp. 1013-1020Dodd, R.L., Barnes, P.D., Huhn, S.L., Spontaneous resolution of a prepontine arachnoid cyst. Case report and review of the literature (2002) Pediatr Neurosurg, 37, pp. 152-157Shim, K.W., Lee, Y.H., Park, E.K., Park, Y.S., Choi, J.U., Kim, D.S., Treatment option for arachnoid cysts (2009) Childs Nerv Syst, 25, pp. 1459-1466Oberbauer, R.W., Haase, J., Pucher, R., Arachnoid cysts in children: A European co-operative study (1992) Childs Nerv Syst, 8, pp. 281-28

Growth In Patients With The Salt-wasting Form Of Congenital Adrenal Hyperplasia During The First Two Years Of Life [crescimento De Pacientes Com Hyperplasia Congênita Das Supra-renais, Forma Perdedora De Sal, Nos Dois Primeiros Anos De Vida]

Objectives: to assess the growth and nutritional recovery of patients with the classical salt-wasting form of congenital adrenal hyperplasia in the first two years of life. Methods: z scores for weight and height were calculated for 21 patients at birth, on the occasion of the first medical consultation and at one and two years of age. The concentrations of 17-hydroxyprog-esterone, androstenedione and the doses of hydrocortisone prescribed at the first medical concentrations up to the age of two years were determined (at one and two years of age respectively). Results: the mean age for the first medical consultation was 36.7 days. The z score for weight at birth was -0.23±1.4; on the occasion of the first consultation -2.31±1.3; at the age of one year -1.43±1.6 and at the age of two years -0.77± 1.3. The z score for height at birth was -0.69±2.3; on the occasion of the first consultation -1.87±1.7; at one year of age - 1.68±1.1 and at two years -1.07±1.0. The difference between the scores at two years of age and on the occasion of the first medical consultation was 1.54±1.7 for weight and 0.80±1.6 for height. The mean dosage of hydrocortisone prescribed was 21.3 and 19.9 mg/m2/day for periods 1 and 2 and the concentrations (ng/dL) of 17-hydroxyprogesterone and androstenedione were 9.1 and 0.14 for period 1 and 4.4 and 0.27 for period 2. Conclusions: nutritional recovery was observed to occur on treatment and, at two years of age, weight and height are normal, although below the average for the population at large.94415421Technical report: Congenital adrenal hyperplasia (2000) Pediatrics, 106, pp. 1511-1518. , American Academy of PediatricsNguyen, A.T., Brown, J.J., Warne, G.L., Growth in congenital adrenal hyperplasia (2006) Indian J Pediatr, 73, pp. 89-93New, M.I., An update of congenital adrenal hyperplasia (2004) Ann N Y Acad Sci, 1038, pp. 14-43Pang, S., Congenital adrenal hyperplasia (1997) Endocrinol Metab Clin North Am, 26, pp. 853-891Forest, M.G., Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2004) Hum Reprod Update, 10, pp. 469-485Miller, W.L., Genetics, diagnosis, and management of 21-hydroxilase deficiency (1994) J Clin Endocrinol Metab, 78, pp. 241-246Girgis, R., Winter, J.S.D., The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyper-plasia (1997) J Clin Endocrinol Metab, 82 (3), pp. 926-929Eugster, E.A., Dimeglio, L.A., Wright, J.C., Freidenberg, G.R., Seshadri, R., Pescovitz, O.H., Height outcome in congenital adrenal hyperplasia caused by 21 hydroxylase deficiency: A meta-analysis (2001) J Pediatr, 138, pp. 26-32Cameron, F.J., Kaymakci, B., Byrt, E.A., Ebeling, P.R., Warne, G.L., WalkJD. Bone mineral density and body composition in congenital adrenal hyperplasia (1995) J Clin Endocrinol Metab, 80, pp. 2238-2243Cornean, R.E., Hindmarsh, P.C., Brook, C.G., Obesity in 21-hydroxylase deficient patients (1998) Arch Dis Child, 78, pp. 261-263Migeon, C.J., Donohoue, P.A., Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems (1991) Endocrinol Metab Clin North Am, 20, pp. 277-296Merke, D.P., Bornstein, S.R., Congenital adrenal hyperplasia (2005) Lancet, 365, pp. 2125-2136Schwartz, R.P., Back to basics: Early diagnosis and compliance improve final height outcome in congenital adrenal hyperplasia (2001) J Pediatr, 138, pp. 3-5Manoli, I., Kanaka-Gantenbein, C.H., Voutetakis, A., Maniati-Christidi, M., Dacou-Voutetakis, A., Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: Factors influencing the outcome (2002) Clin Endocrinol (oxf), 57, pp. 669-676Savage, M.O., Scommegna, S., Carroll, P.V., Ho, J.T., Monson, J.P., Besser, G.M., Grossman, A.B., Growth in disorders of adrenal hyperfunction (2002) Horm Res, 58 (SUPPL. 1), pp. 39-43van der Kamp, H.J., Otten, B.J., Buitenweg, N., de Munick Keiser-Schrama, S.M.P.F., Oostdijk, W., Jansen, M., Delemarre-de-Waal, H.A., Wit, J.M., Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients (2002) Arch Dis Child, 87, pp. 139-144Lemos-Marini, S.H.V., Guerra-Júnior, G., Morcillo, A.M., Baptista, M.T.M., Silva, L.O., Maciel-Guerra, A.T., Hiperplasia congênita das supra-renais por deficiência da 21-hidroxilase: Altura final de 27 pacientes com a forma clássica (2005) Arq Bras Endocrinol Metab, 49, pp. 902-907Hargitai, G., Sólyom, J., Battelino, T., Lebl, J., Pribilincová, Z., Hauspie, R., Kovács, J., Frisch, H., Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study (2001) Horm Res, 55, pp. 161-171. , and the MEWPE-CAH study group(2000) Cdc Growth Charts: United States, , http://www.cdc.gov/growthcharts/, National Center for Health Statistics, [cited on 2007 mar 8] Available fromRamos, C.C.A., Bento, L.R., Gonçalves, E.M., De-Mello, M.P., Baptista, M.T.M., Lemos-Marini, S.H.V., Guerra-Junior, G., Avaliação do crescimento, do controle laboratorial e da corticoterapia em um grupo de pacientes com a forma clássica da deficiência da 21-hidroxilase (2007) Rev Paul Pediatr, 25, pp. 317-323Gussinye, M., Potau, N., Vicens-Calvet, E., Albisu, M.A., Yeste, D., Ibanez, L., Audí, L., Carrascosa, A., Adult height, pattern of growth and pubertal development in patients with congenital adrenal hyperplasia, salt losing form (1997) Med Clin (barc), 108, pp. 87-9

Sexual Difference, Identification And Object Choice In Individuals With Sex Differentiation Disorders [diferença Sexual, Identificação E Escolha De Objeto Em Pacientes Com Distúrbios Da Diferenciação Sexual]

Objective: To investigate how sexual identity is structured and also to investigate the relationship between sexual identity, choice of sex object and sexual difference. Method: Semi-structured interviews were held with seven adult patients who were born with sex differentiation disorders: Two had 5- alpha-reductase type-2 deficiency and five had congenital adrenal hyperplasia. Conclusions: Sex is trauma. Neither male nor female nor any other gender identification implies the choice of sex object, genders of partners or sexual practices. © 2009 Associação Universitária de Pesquisa em Psicopatologia Fundamental/University Association for Research in Fundamental Psychopathology.153464481Blizzard, R.M., Intersex Issues: A Series of Continuing Conundrums (2002) Pediatrics, 111 (3), pp. 616-621Bradley, S.J., Experiment of Nature: Ablatio Penis at 2 Months, Sex Reassignment at 7 Months, and a Psychosexual Follow-up in Young Adulthood (1998) Pediatrics, 102 (1), pp. e9Cohen-Kettennis, P.T., Gender change in 46, XY persons with 5[alpha]-reductase-2 deficiency and 17 [beta]-hydroxysteroid dehydrogenase-3 deficiency (2005) Archives of Sexual Behavior, 34 (4), p. 399Damiani, D., Guerra Jr., G., As novas definições dos estados intersexuais: O que o Consenso de Chicago contribui para o estado da arte? (2007) Arquivos Brasileiros de Endocrinologia & Metabologia, 51 (6), pp. 1013-1017Diamond, M., Sigmundson, H.K., Management of intersexuality-Guidelines for dealing with persons with ambigous genitals (1997) Archives of Pediatrics Adolescent, (151), pp. 1046-1050Freud, S., Três ensaios sobre a teoria da sexualidade (1905) Edição Standard Brasileira das Obras Psicológicas Completas de Sigmund Freud, 7, pp. 119-218. , In: Rio de Janeiro: Imago 1996Freud, S., Romances familiares (1909) Edição Standard Brasileira das Obras Psicológicas Completas de Sigmund Freud, 9, pp. 219-222. , [1908]In: Rio de Janeiro: Imago 1996Freud, S., Psicologia de grupo e a análise do ego (1921) Edição Standard Brasileira das Obras Psicológicas Completas de Sigmund Freud, 18, pp. 79-154. , In: Rio de Janeiro: Imago 1996Freud, S., (1921) Group Psychology and the Analysis of the Ego, 12. , London: Penguin Books 1991Harrison, J., Pink, lavender and grey: Gay, lesbian, bisexual, transgender and intersex ageing in Australian gerontology (2005) Gay and Lesbian Issues and Psychology Review, 1 (1), pp. 11-16Hughes, I.A., Consensus statement on management of intersex disorders (2006) Journal of Pediatric Urology, 2 (3), pp. 148-162Lacan, J., (2003) A identificação. Seminário de 1961-1962, , Tradução do Centro de Estudos Freudianos do RecifeLee, P.A., Consensus Statement on Management of Intersex Disorders (2006) Pediatrics, 118 (2), pp. e488-e500. , AugustMazur, T., Male Pseudohermaphroditism: Long-term quality of life outcome in five 46, XY individuals reared female (2004) Journal of Pediatric Endocrinology and Metabolism, 17, pp. 809-823Merke, D.P., Bornstein, S.R., Congenital Adrenal hyperplasia (2005) Lancet, 365 (9477), pp. 2125-2136Meyer-Bahlburg, H.F.L., Gender dysphoria and gender change in persons with intersexuality (2005) Archives of Sexual Behavior, 34 (4), pp. 371-373Money, J., A first person history of pediatric psychoendocrinology (2002) Perspectives in sexuality series New York, pp. 1-51. , Plenum Publishers. Reimpressão da 1 aediçãoSinnecker, Phenotypic classification of male pseudohermaphroditism due to Steroid 5 alpha Reductase 2 Deficiency (1996) Amercian Journal of Medical Genetics, 63 (1), pp. 223-230Zucker, K.J., Measurement of psychosexual differentiation (2005) Archives of Sexual Behavior, 34 (4), pp. 375-388Zucker, K.J., Bradley, S.J., Oliver, G., Blake, J., Fleming, S., Hood, J., Self-reported sexual arousability in women with congenital adrenal hyperplasia (2004) Journal of Sex and Marital Therapy, 30 (5), pp. 343-35

Normalization Of Height And Excess Body Fat In Children With Salt-wasting 21-hydroxylase Deficiency [normalização Da Estatura E Excesso De Adiposidade Corporal Em Crianças Com A Forma Perdedora De Sal Da Deficiência Da 21-hidroxilase]

Objective: To evaluate growth and body composition of patients with the salt wasting form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and to compare them with healthy children. Methods: Twenty-one prepubertal patients (eight boys and 13 girls) between 2.1 and 10.2 years and 67 prepubertal healthy controls (36 boys and 31 girls) between 1.2 and 11.7 years were included. Weight, height, upper-arm circumference, skinfolds, body composition determined by bioimpedance, and bone age were measured. The following data were obtained from the medical records: parents' height, serum levels of 17-hydroxyprogesterone and Δ4-androstenedione, prescribed hydrocortisone doses, weight and length at birth, in the beginning of the treatment, and at 2 years. Results: Patients had lower weight and length z scores at the first appointment compared with the same data at birth, showing recovery after the beginning of the treatment without advanced bone age. Mean height z score was higher in controls (0.28±0.86) than in patients (-0.61±0.99, p < 0.001); this difference disappeared when the patients' height was adjusted to their bone age (0.33±1.68, p = 0.912). Patients had higher body mass index (p < 0.001), fat mass (p < 0.001), and fat mass index (p < 0.001) than controls. There was no difference in the skinfolds between the two groups (p = 0.157). Conclusions: Patients had growth recovery with mean height similar to the general population; however, they had higher body fat, which seems to be visceral, since there was no difference between the skinfolds of both groups. Copyright © 2011 by Sociedade Brasileira de Pediatria.873263268Speiser, P.W., Azziz, R., Baskin, L.S., Ghizzoni, L., Hensle, T.W., Merke, D.P., Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline (2010) J Clin Endocrinol Metab, 95, pp. 4133-4160Forest, M.G., Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2004) Human Reproduction Update, 10 (6), pp. 469-485. , DOI 10.1093/humupd/dmh047Eugster, E.A., DiMeglio, L.A., Wright, J.C., Freidenberg, G.R., Seshadri, R., Pescovitz, O.H., Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: A meta-analysis (2001) Journal of Pediatrics, 138 (1), pp. 26-32. , DOI 10.1067/mpd.2001.110527Cameron, F.J., Kaymakci, B., Byrt, E.A., Ebeling, P.R., Warne, G.L., Walk, J.D., Bone mineral density and body composition in congenital adrenal hyperplasia (1995) J Clin Endocrinol Metab, 80, pp. 2238-2243Cornean, R.E., Hindmarsh, P.C., Brook, C.G.D., Obesity in 21-hydroxylase deficient patients (1998) Archives of Disease in Childhood, 78 (3), pp. 261-263Hagenfeldt, K., Martin Ritzén, E., Ringertz, H., Helleday, J., Carlström, K., Bone mass and body composition of adult women with congenital virilizing 21-hydroxylase deficiency after glucocorticoid treatment since infancy (2000) Eur J Endocrinol, 143, pp. 667-671Manoli, I., Kanaka-Gantenbein, C.., Voutetakis, A., Maniati-Christidi, M., Dacou-Voutetakis, C., Early growth, pubertal development, body mass index and final height of patients with congenital adrenal hyperplasia: Factors influencing the outcome (2002) Clinical Endocrinology, 57 (5), pp. 669-676. , DOI 10.1046/j.1365-2265.2002.01645.xStikkelbroeck, N.M.M.L., Oyen, W.J.G., Van Der, W.G.-J., Hermus, A.R.M.M., Otten, B.J., Normal bone mineral density and lean body mass, but increased fat mass, in young adult patients with congenital adrenal hyperplasia (2003) Journal of Clinical Endocrinology and Metabolism, 88 (3), pp. 1036-1042. , DOI 10.1210/jc.2002-021074Völkl, T.M., Simm, D., Beier, C., Dörr, H.G., Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2006) Pediatrics, 117, pp. e98-e105Muthusamy, K., Elamin, M.B., Smushkin, G., Murad, M.H., Lampropulos, J.F., Elamin, K.B., Clinical review: Adult height in patients with congenital adrenal hyperplasia: A systematic review and metaanalysis (2010) J Clin Endocrinol Metab, 95, pp. 4161-4172Hargitai, G., Sólyom, J., Battelino, T., Lebl, J., Pribilincová, Z., Hauspie, R., Growth patterns and final height in congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency. Results of a multicenter study (2001) Horm Res, 55, pp. 161-171Van Der, K.H.J., Otten, B.J., Buitenweg, N., De Muinck K.-Schrama, S.M.P.F., Oostdijk, W., Jansen, M., Delemarre-de, W.H.A., Wit, J.M., Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients (2002) Archives of Disease in Childhood, 87 (2), pp. 139-144. , DOI 10.1136/adc.87.2.139Lemos-Marini, S.H., Guerra-Júnior, G., Morcillo, A.M., Baptista, M.T., Silva, L.O., Maciel-Guerra, A.T., Hiperplasia congênita das supra-renais por deficiência da 21-hidroxilase: Altura final de 27 pacientes com a forma clássica (2005) Arq Bras Endocrinol Metab, 49, pp. 902-907Paulino, L.C., Araujo, M., Guerra, G., Marini, S.H.V.L., De Mello, M.P., Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency (1999) Acta Paediatrica, International Journal of Paediatrics, 88 (3), pp. 275-283. , DOI 10.1080/08035259950170024Soardi, F.C., Barbaro, M., Lau, I.F., Lemos-Marini, S.H.V., Baptista, M.T.M., Guerra Jr., G., Wedell, A., De Mello, M.P., Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in brazilian and scandinavian patients (2008) Journal of Clinical Endocrinology and Metabolism, 93 (6), pp. 2416-2420. , http://jcem.endojournals.org/cgi/reprint/93/6/2416, DOI 10.1210/jc.2007-2594Frisancho, A.R., Anthropometric standards (1993) Anthropometric Standards for the Assessment of Growth and Nutritional Status, pp. 37-118. , Frisancho AR. 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