Cytogenetic and molecular characterization of an SRY-negative 46, XX ovotesticular DSD: a case report

Introduction: Ovotesticular disorder of sex development is a rare condition by the concomitant presence of testicular and ovarian tissue, and usually presents genital ambiguity. Are chromosomally heterogeneous, and cytogenetic analyses is relevant. Objective: report on a patient from Manaus, Amazonas state with ovotesticular disorder of sex differentiation 46, XX and SRY-negative. Case report: Patient of 19 years, first child of non-consanguineous parents. At birth, the patient was diagnosed with genital ambiguity and, without early diagnosis, he was registered as being of the male sex. The patient underwent surgery to correct bilateral cryptorchidism, orchiopexy and colpectomy. During puberty, he developed female and male sexual characteristics. Endocrinological (normal total testosterone and estradiol as high follicle-stimulating hormone and luteinizing hormone), histopathological (right gonad, ovarian follicles and left gonads, atrophic testicles), karyotype (46, XX) and molecular (SRY-negative). Diagnosis of ovotesticular disorder of sex development was established. The patient chose to remain male and underwent bilateral mastectomy, vaginal colpectomy and bilateral gonadectomy. Currently, the patient receives hormonal replacement therapy, follow-up with a multi-professional approach and awaits masculinizing genitoplasty. Discussion: In diagnostic research, cytogenetic and molecular analysis are primary tools. For OT-DSD individuals with 46, XX, the female sex is suggested as the best sex option. Unlike the reported cases, the patient chose the male sex, since the sex at registration of birth was important in his choice. Conclusion: Cytogenetic and molecular analyses allowed us to assist in the etiological diagnosis of the patient with OT-DSD from Manaus. However, molecular analyses are necessary to elucidate the genes involved in the sexual determination of this patient

Screening for fmr1 expanded alleles in patients with autism spectrum disorders in Manaus, Northern Brazil

Fragile X Syndrome (FXS) is a neurodevelopmental disorder caused by dynamic mutations of a CGG repetition segment in an X chromosome’s single gene. It is considered the leading hereditary cause of both Autism Spectrum Disorders and Intellectual Disability. Some authors suggest that all individuals diagnosed with some of these latter conditions to be clinically and molecularly trialled for FXS due to the high levels of comorbidity between both conditions and also due to the variable expressiveness of this syndrome. This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia syndrome. No full mutation alleles were found. Further studies are necessary to obtain more accurate statistical data about this kind of dynamic mutation. © 2019, Academia Brasileira de Ciencias. All rights reserved

Evidence of multiple paternal contribution in Podocnemis sextuberculata (Testudines: Podocnemididae) detected by microsatellite markers

Evidência de contribuição paterna múltipla em Podocnemis sextuberculata (Chelonia: Podocnemididae) por meio de marcadores microssatélites. Encontramos evidências de paternidade múltipla em uma amostra de 80 recém-eclodidos de sete ninhos de Podocnemis sextuberculata situados ao longo do rio Amazonas, no município de Barreirinha, AM, Brasil, e 54 indivíduos recém-eclodidos de cinco ninhos na Reserva Biológica Abufari, Tapauá, AM, Brasil. Como observado em outras espécies do gênero, P. sextuberculata apresentou comportamento poliândrico. Por meio da frequência alélica e variação em seis locos microssatélite para cada localidade, a ocorrência de paternidade múltipla em ninhos amostrados dessa espécie foi inferida, mesmo o genótipo da mãe sendo desconhecido. Para um dos ninhos, um mínimo de quatro machos contribuíram para a prole, enquanto que para quase todos os outros ninhos, pelo menos dois machos contribuíram. Apenas um dos 12 ninhos não mostrou evidência clara de contribuição de mais de um macho. Esta é a primeira evidência genética de paternidade múltipla em P. sextuberculata.Evidence of multiple paternity in Podocnemis sextuberculata (Testudines: Podocnemididae) detected by microsatellite markers. We found evidence of multiple paternity in a sample of 12 Podocnemis sextuberculata nests including seven nests (80 hatchlings) collected along the Amazonas River, in the municipality of Barreirinha, AM, Brazil and five nests in the Abufari Biological Reserve, Tapauá, AM, Brazil (54 hatchlings). As observed in other species of the genus, P. sextuberculata also presented polyandric behavior. By means of allelic frequency and variation in six microsatellite loci for each location, the occurrence of multiple paternity in sampled nests of this species was inferred, even though the maternal genotype was unknown. For one of the nests, a minimum of four males contributed to the clutch, whereas for nearly all remaining nests at least two males contributed. Only one of the twelve nests did not show clear evidence for contributions from more than one male. This is the first genetic evidence of multiple paternity in P. sextuberculat

Relationship between multiple paternity and reproductive parameters for Podocnemis sextuberculata (Testudines: Podocnemididae) in the Trombetas River, Brazil

Genetic studies of multiple paternity are a valuable tool to gain information on the reproductive biology of turtles. We analyzed paternity type in Podocnemis sextuberculata and related number of fathers per nest to nesting period (beginning, middle, or end of nesting season); clutch size (number of eggs); female size; and hatchling success. Females were captured and maximum linear carapace lengths measured during the 60 days that encompass the nesting season at Rio Trombetas Biological Reserve (Pará, Brazil). Nests were marked and blood samples collected from hatchlings. Six heterologous loci were used: five from Podocnemis unifilis and one from Podocnemis expansa. Hatchlings were analyzed from 23 nests, and the rate of multiple paternity was 100%. The mean number of fathers per nest was six (± 0.9), and no significant difference between number of fathers in a nest and nesting period. Similarly there was no significant relationship between number of fathers in a nest and female size or hatchling success rate. Number of fathers was, however, positively correlated with clutch size (Spearman correlation rho = 0.47; P > 0.05). To our knowledge, this is the first study to test the relationship between multiple paternity and ecological aspects of the reproductive ecology of turtles in the genus Podocnemis. © FUNPEC-RP

Juvenile Huntington’s disease in northern Brazil: a case series report

Introduction: Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood. In about 5% of cases, however, the signs begin before the age of 20 years. These cases are known as juvenile HD (JHD). Objective: Here we report a case series of JHD from Amazonas, a state where data are scarce due to the restricted access to specialized medical assistance for diagnosis and care. Case series: The patients were attended by neurologists specialized in movement disorders at Manaus. Two cases manifested the disease in childhood (6 and 7 years old) and two cases, in adolescence (12 and 16 years old). All cases showed dystonia and parkinsonism as predominant motor disorders. Moreover, signs of cognitive decline, depression, and psychosis were observed in all patients. Conversely, cerebellar signs, gait disturbances, seizures, and some psychiatric symptoms were variable among the cases. Expansion size varied from 66 to 84 to CAG repeats and the difference in age at onset between parent and child varied from 23 to 43 years. Conclusion: To our knowledge, these are the first clinical reports of JHD in northern Brazil. These cases illustrate the variability in clinical phenotypes and genetic features of JHD cases. Furthermore, they can contribute to the awareness of HD here, both by professionals and the public in general.Introduction: Huntington’s disease (HD) is a neurodegenerative disorder caused by CAG expansion repeats in the HTT gene. Usually, the symptoms start to manifest in mid-adulthood. In about 5% of cases, however, the signs begin before the age of 20 years. These cases are known as juvenile HD (JHD). Objective: here we report a case series of JHD from Amazonas, a state where data are scarce due to the restricted access to specialized medical assistance for diagnosis and care. Case series: the patients were attended by neurologistsspecialized in movement disorders at Manaus. Two cases manifested the disease in childhood (6 and 7 years old) and two cases, in adolescence (12 and 16 years old). All cases showed dystonia and parkinsonism as predominant motor disorders. Moreover, signs ofcognitive decline, depression, and psychosis were observed in all patients. Conversely, cerebellar signs, gait disturbances, seizures, and some psychiatric symptoms were variable among the cases. Expansion size varied from 66 to 84 to CAG repeats and the difference inage at onset between parent and child varied from 23 to 43 years. Conclusion: to our knowledge, these are the first clinical reports of JHD in northern Brazil. These cases illustrate the variability in clinical phenotypes and genetic features of JHD cases. Furthermore,they can contribute to the awareness of HD here, both by professionals and the public in general

ESTUDIO DE LAS ANOMALÍAS CROMOSÓMICAS QUE OCURRIERON EN UNA MATERNIDAD EN LOS AÑOS DE 2010 A 2014

O presente estudo buscou identificar a existência de anomalias cromossômicas registradas nos prontuários de nascidos vivos em uma maternidade. Estudo retrospectivo que analisou as informações contidas nos prontuários dos arquivos do Serviço de Arquivamento Médico de uma maternidade do estado do Amazonas entre janeiro de 2010 e dezembro de 2014, e estudou-se a correlação de anomalias cromossômicas presentes com características maternas e do nascido vivo. Analisou-se 15.621 prontuários, destes 163 apresentaram defeitos congênitos, 15 foram diagnosticados com síndromes cromossômicas distribuídas em três tipos de anomalias: 13 indivíduos com Síndrome de Down, um com Síndrome de Patau e um com Síndrome de Dany-Walker. Este é o primeiro registro de ocorrência e perfil dos nascimentos com anomalias cromossômicas em uma maternidade. O resultado é de grande importância para a saúde pública do Estado. A realização de novos estudos poderá fornecer um melhor panorama sobre diferentes doenças genéticas daquele estado.This study sought to identify the existence of chromosomal abnormalities recorded in the medical records of live-born infants in a maternity hospital. This retrospective study analyzed the information contained in the medical records of the archives of the Medical Archiving Service of a maternity hospital in Amazonas state between January 2010 and December 2014, with the correlation between the chromosomal abnormalities and the characteristics of the mothers and the live-born infants also studied. A total of 15,621 records were analyzed, of these 163 presented congenital defects, with 15 diagnosed with chromosomal syndromes, divided into three types of anomalies: 13 individuals with Down syndrome, one with Patau syndrome and one with Dandy-Walker syndrome. This is the first registration of the occurrence and profile of births with chromosomal abnormalities in a maternity hospital. The result is of great importance for the public health service of the state. The performance of further studies may provide a better overview of the different genetic diseases of this state.Este estudio tuvo la finalidad de identificar la existencia de anomalías cromosómicas registradas en los prontuarios de nacidos vivos en una maternidad. Estudio retrospectivo hecho por medio de análisis de informaciones contenidas en los prontuarios de los archivos del Servicio de Archivo Médico de una maternidad del estado de Amazonas entre enero de 2010 y diciembre de 2014. Fue examinada la correspondencia de anomalías cromosómicas presentes con características maternas y del nacido vivo. Se analizaron 15.621 prontuarios, de los cuales 163 presentaron defectos congénitos, 15 fueron diagnosticados con síndromes cromosómicas distribuidas en tres tipos de anomalías: 13 individuos con Síndrome de Down, un con Síndrome de Patau y un con Síndrome de Dany-Walker. Este es el primero registro de ocurrencia y perfil de los nacimientos con anomalías cromosómicas en una maternidad. El resultado tiene gran importancia para la salud pública del estado. La realización de nuevos estudios podrá traer un mejor panorama acerca de distintas enfermedades genéticas del estado