We report acase of!ovotesticular disorder of sex development!(DSD) with ambiguous genitalia,
46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the pertinent
features of this case. Results of hormonal, genetic testing and histopathology findings are
reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized
even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of
true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is necessary
because of the multiple psychological, gynecological and urological problems encountered
postpubertally by these patients

Alves, F

Cardoso, D

Casella, P

Catela Mota, F

Kay, T

Knoblich, M

Lopes, L

Pratas Vital, V

Repositório do Centro Hospitalar de Lisboa Central, EPE

36 Vol 8 / No 3 / 2014Journal of Pediatric Surgical SpecialtiesIntroductionDisorders of sex development (DSD) area group of sexual differentiation disorders re-sulting in genital anomalies with defects in go-nadal hormone synthesis and/or incomplete genital development. These conditions result in issuesconcerning the sex assignment of the child. Ovotesticular disorder of sex development (OT-DSD) is a rare disorder in which both ovar-ian and testicular tissues are present. Diagnosis is most frequently made in the early postnatal period, but can be delayed until puberty, or suspected before birth with improved prenatal imaging and knowledge.Case reportWe present a case of a female patient, 11 years old transferred to Hospital de Dona Es-tefânia in Lisbonfrom a regional hospital in An-gola with ambiguous genitalia. At birth was as-signed as female, anaccurate diagnosis being delayed formany years in spite of ambiguous genitaliadetected early in life. Prior history was unavailable.On general examination, she was a normal statured phenotypic female with Tanner stage 1, no breast development and no pubic hair. Genitalia consisted of 7 cm phallic structure and labio-scrotalfolds with non-palpable testes (Fig. 1).A CASE OF LATE-DIAGNOSED  OVOTESTICULAR DISORDER  OF SEX DEVELOPMENTMaria Knoblich1, Vanda Pratas Vital1, Dinorah Cardoso1, Fátima Alves1, Filipe Catela Mota1,  Lurdes Lopes2,  Teresa Kay3, Paolo Casella11Pediatric Surgery Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal 2Pediatric Endocrinology Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal 3Genetics Department, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, PortugalAbstractWe report acase of ovotesticular disorder of sex development (DSD) with ambiguous genitalia, 46XX presenting the clinical, laboratory, imaging and operative findings and highlighting the per-tinent features of this case. Results of hormonal, genetic testing and histopathology findings are reviewed. Diagnosis of true hermaphroditism is well defined and the condition can be recognized even prenatally. Conservative gonadal surgery is the procedure of choice after the diagnosis of true hermaphroditism, if the risk of a gonadal malignancy is low. Continued follow-up is neces-sary because of the multiple psychological, gynecological and urological problems encountered postpubertally by these patients.Keywords: disorder of sex development, ovotestis, true hermaphroditism, disorder of sex develop-ment, ambiguous genitaliaMaria KnoblichHospital Dona EstefâniaRua Jacinta Marto, 1169-045 LisboaTel: +351916085745E-mail: mknoblich@gmail.com CorrespondenceVol 8 / No 3 / 2014www.jpss.eu37Karyotype analysis revealed 46,XX without SRY gene. The levels of follicle stimulating hormone 75,66mUI/ml (0,2-8mUI/ml), lu-teinizing hormone 19,19 mUI/ml (0,5-9mUI/ml) and estradiol 47pg/ml (0,3-20,6pg/ml) were abnormal. Levels of testosterone were 406,36 ng/dl  for a normal value of 30ng/d.Abdominal and pelvic ultrasound showed a small uterus pre-pubertalde 50x 13 x 10 mm with no endometrial development, and small ovaries with one or two milimetric follicular cysts.On Magnetic Resonance Imaging, a small uterus 57 x 11 x 15 mm was identified, with regular thin endometrial tissue, small ovaries, and 2/3 of (superior e middle) vagina with normal morphology that ended near urethra suggesting urogenital sinus (Fig. 2).Subsequently, she underwent cystoscopy, vaginoscopyand laparoscopy for evaluation of DSD.Diagnostic laparoscopy demonstrated the presence of an intra-abdominal left testis and of a rudimentary right ovary, instead of the two ovaries identified in the MRI. A rudimen-tary uterus and a right fallopian tube were also identified.  Biopsies were done.Cystoscopy showed a normal urethra, nor-mal bladder neck, with both ureters draining on the trigone. Vaginoscopy revealed a vagi-nal orifice very closed to the urethra, vaginal length seemed to correspond to the MRI.Histological analysis confirmed normal parenchima on both the left testis and ova-ry. Karyotype and histological analysis con-firmed that she had ovotesticular DSD.Psychiatric evaluation revealed no gender identity disorder, hence it was decided that the patient would be continued to be raised as a female.One month later laparoscopic orhidectomy was performed and feminizing genitoplasty was done (monsplasty, clitoroplasty and vagi-noplasty).There were no postoperative compli-cations.At 12 year of age she required hormonal re-placement and vaginal dilations (Fig. 3).Patient appears healthy on follow-up after 2 years.Figure 1: External genital organs aspect on physical examFigure 2: MRI imageFigure 3: Postoperative external genitalia aspect38 Vol 8 / No 3 / 2014Journal of Pediatric Surgical Specialties1. Hughes IA, Houk C, Ahmed SF, Lee PA.Consensus statement on management of intersex disorders. Arch Dis Child 2006;91:554–63.2. 4. Krob G, Braun A, Kuhnle U. True hermaphroditism: geographi-cal distribution,clinical findings, chromosomes and gonadal histol-ogy. Eur J Pediatr 1994;153:2–10.3. Bhansali A, Mahadevan S, Singh R, Rao KL,Garewal G. True her-maphroditism: clinical profile and management of six patients from North India. J ObstetGynaecol 2006;26:348–50.4. Vilain E. The genetics of ovotesticular disorders of sex develop-ment. AdvExp Med Biol 2011;707:105–6.5. Diamond DA, Yu RN. Sexual differentiation: normal and abnor-mal. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA (eds). Campbell-Walsh Urology, 10th edn. 2012, Saunders Else-vier, Philadelphia, pp 3613-4. 6. Bouvattier C. Disorders of sex development: endocrine as-pects. In: Gearhart JP, Rink RC, Mouriquand P (eds). Pedi-atric Urology, 2nd edn. 2010, Saunders Elsevier, Philadelph-ia, pp 468-9. 7. Verp MS, Simpson JL. Abnormal sexual differentiation and neo-plasia. Cancer Genet Cytogenet 1987;25:191-218.8. Reiner WG. Gender identity and sex-of-rearing in children withdisorders of sexual differentiation. J PediatrEndocrinol-Metab2005;18:549-553.9. Parisi MA, Ramsdell LA, Burns MW, Carr MC, Grady RE,Gunther DF, et al. A Gender Assessment Team: experi-ence with250 patients over a period of 25 years. Genet Med 2007;9:348-357.10. JaruratanasirikulS, Engchaun V. Management of children with disorders of sex development: 20-year experience in southern Thailand. World J Pediatr. 2014 May;10(2):168-74. doi: 10.1007/s12519-013-0418-0. Epub 2013 Jun 1711. Verkauskas G1, Jaubert F, Lortat-Jacob S, Malan V, Thibaud E, Nihoul-Fékété C. The long-term followup of 33 cases of true her-maphroditism: a 40-year experience with conservative gonadal surgery. J Urol. 2007 Feb;177(2):726-31; discussion 731.R E F E R E N C E SDiscussion OT-DSD replaced the term “true hermaph-rodite” in 2006[1]. It constitutes between 3 and 10% of the total DSD and presents sig-nificant diagnostic and management chal-lenges [2,3].Epidemiologically, the geographical distribu-tion of OT-DSD shows a higher prevalence in the African continent, especially among South African blacks, with the number of published cases being 17 per 100 million people [4].Typically, both Mullerian and Wolffian duct derivatives are seen, and most affected in-dividuals present with ambiguous external genitalia as neonatesor infants. The phenotype covers the entire spectrum, with ambiguity and asymmetry being the rule, but with a tendency toward masculin-ization. Fertility has been described in those raised as female, but testicular fibrosis makes this unlikely in those raised as male.The ovotestis is usually the most common gonad in individuals with OT-DSD, followed by ovaries and testis. It can be associated with a variety of karyo-types, approximately 60% of children with ovo-testicular DSD have a 46, XX karyotype; 33% are mosaics with a second cell line containing a chromosome (46, XX/46, XY; 46, XX/46, XXY), and 7% are 46, XY [5,6].The diagnosis of ovotesticular DSD is sug-gested by a mosaic karyotype or ductal struc-tures, but is confirmed by the presence of ovarian and testicular tissue by biopsy.Gender assignment is done based on the functional potential of genitalia and gonads and the gender identity of the patient. All con-tradictory gonadal tissue is removed early by surgical exploration.A 1% to 10% incidence of testicular tumor development is found in males, predominantly gonadoblastomas and dysgerminomas, so long-term surveillance is needed [7].Retained testicular tissue will cause viriliza-tion in the females. In males, the testicular tissue is preserved and orchiopexy is per-formed. Hypospadias repair also is required in the males, and feminizing genitoplasty is per-formed in the females.Another important management issue in patients with sexual ambiguity is the decision regarding sex assignment, particularly when the genital appearance is not compatible with the karyotype [8,9]. The most important factors that influence sex assignment include the definite diag-nosis, genital appearance, surgical options, potential for fertility, risks of gonadalmalig-nancy, cultural issues and finally, the percep-tion of the patient [10].A multidisciplinary ap-proach is needed.In this patient, proper investigations and accurate diagnosis had been delayed for many years in spite of ambiguous genitalia being detected early in life. This could have led to clinical and psycho-logical problems in the adult life. Continued follow-up is necessary because of the multi-ple psychological, gynecological and urolog-ical problems encountered postpubertally by these patients [11].

A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development

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A Case of Late-Diagnosed Ovotesticular Disorder of Sex Development

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Repositório do Centro Hospitalar de Lisboa Central, EPE