True agonadism: Report of a case analyzed with Y‐specific DNA probes

Maciel‐Guerra, Andréa T.; Farah, Solange Bento; Garmes, Heraldo Mendes; Pinto, Walter Pari; Silva, Joaquim M. Bustorff Da; Baptista, Mónica; Marques-de-Faria, Antônia Paula; Guerra, Gil; Mello, Maricilda Palandi de

doi:10.1002/ajmg.1320410412

Cited by 16 publications

(8 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Cases of 46,XX ovotesticular DSD and 46,XX testicular DSD were seen in the same family, in monozygotic twins, suggesting that these two disorders can have one etiology with a broad phenotypic spectrum [40]. Less frequent etiologies of DGD in this series were 46,XX testicular DSD [41] and testicular regression syndrome [42, 43]. …”

Section: Discussionmentioning

confidence: 71%

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Paula

Barros

Carpini

et al. 2016

International Journal of Endocrinology

Self Cite

View full text Add to dashboard Cite

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testicular DSD, 105 (25.7%) 46,XX ovarian DSD, 95 (23.3%) disorders of gonadal development (DGD), and 19 (4.7%) complex malformations. The main etiology of 46,XX ovarian DSD was salt-wasting 21-hydroxylase deficiency. In 46,XX and 46,XY groups, other malformations were observed. In the DGD group, 46,XY partial gonadal dysgenesis, mixed gonadal dysgenesis, and ovotesticular DSD were more frequent. Low birth weight was observed in 42 cases of idiopathic 46,XY testicular DSD. The average age at diagnosis was 31.7 months. The final sex of rearing was male in 238 cases and female in 170. Only 6.6% (27 cases) needed sex reassignment. Conclusions. In this large DSD sample with ambiguous genitalia, the 46,XY karyotype was the most frequent; in turn, congenital adrenal hyperplasia was the most frequent etiology. Malformations associated with DSD were common in all groups and low birth weight was associated with idiopathic 46,XY testicular DSD.

show abstract

Section: Discussionmentioning

confidence: 71%

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Paula

Barros

Carpini

et al. 2016

International Journal of Endocrinology

Self Cite

View full text Add to dashboard Cite

show abstract

“…

We read with interest the report of Maciel-Guerra et al (1991) of a 5-year-old child with a 46,XY karyotype, severe psychomotor and physical retardation, and female external genitalia. Recently we saw a similar case.Our patient was the only child of healthy unrelated parents born after an uncomplicated pregnancy; birth weight was 3,178 g, and birth length 50.8 cm.

…”

mentioning

confidence: 99%

“…We read with interest the report of Maciel-Guerra et al (1991) of a 5-year-old child with a 46,XY karyotype, severe psychomotor and physical retardation, and female external genitalia. Recently we saw a similar case.…”

mentioning

confidence: 99%

Re: True agonadism: Report of a case analyzed with Y‐specific DNA probes

et al. 1995

View full text Add to dashboard Cite

We read with interest the report of Maciel-Guerra et al. (1991) of a 5-year-old child with a 46,XY karyotype, severe psychomotor and physical retardation, and female external genitalia. Recently we saw a similar case.Our patient was the only child of healthy unrelated parents born after an uncomplicated pregnancy; birth weight was 3,178 g, and birth length 50.8 cm. The father was 24 and the mother 27 years old. She was first evaluated at age 4 months when she presented with global developmental delay, microcephaly, and nystagmus. A CAT scan of the brain showed absence of the cerebellum, pachygyria, absence of the corpus callosum, and ventricular dilatation.The family history was non-contributory. The mother has four sisters and no brothers. All of her sisters had normal menarche; two have had healthy children.On physical examination the infant was between the 10th and 25th centiles for length, at the 25th centile for weight, and well below the 3rd centile for head circumference. She was hypotonic with mild plagiocephaly. She had intermittent nystagmus; her ears were low-set with normal configuration. She had a "carp-shaped" mouth with marked micrognathia. There were no cardiac murmurs and no abdominal organomegaly. She had female external genitalia.Blood for karyotyping was obtained. When the results of 46,XY were reported, we considered the possibility that there had been a mix-up of samples in the laboratory and repeated the study. Again, the results showed 46,xY; a total of 32 metaphases was examined. A prometaphase study at the 700 band level did not show deletion of the number 17 chromosomes. The Y chromosome appeared normal by Q banding.When seen in follow-up at age 7 months, global developmental delays persisted. She did not have clinically recognized seizures and continued to feed and grow well, although she was still profoundly hypotonic.A pelvic ultrasound examination showed no evidence of a uterus and no identifiable gonads.

show abstract

“…Los genitales internos están representados por un útero y trompas, pero pueden estar ausentes, y no se encuentran gónadas ni aún en una situación ectópica. Los pacientes crecen como niñas y el diagnóstico puede retrasarse hasta que consultan por otros síntomas 45 . Los casos pueden ser esporádicos o familiares, pudiendo presentar anomalías extragenitales asociadas.…”

Section: El Agonadismo Verdaderounclassified

Valor de la biopsia gonadal en el diagnóstico de los desórdenes del desarrollo sexual

Nistal

García-Fernández²,

Mariño-Enríquez³

et al. 2007

Actas Urológicas Españolas

View full text Add to dashboard Cite

The gonadal biopsy provides essential information for the identification, classification and early detection of neoplasias in patients with disorders of sex development. Histopathological findings in these cases must be analysed together with clinical, hormonal, genetic and molecular information before deciding a therapeutic option. Sexual differentiation is the result of multiple and complex genetic and endocrinal mechanisms; therefore, we first present the events taking place during gonadal embryonic development, focusing on the genetic mechanisms involved in sexual determination and the differentiation of the testis and the urogenital tract. In second place, we describe the different gonads in the intersexual states -in testicular regression syndrome, fibrous streak, testicular dysgenesis, streak testes, ovotestes and microscopically normal testes and ovaries-, highlighting the histological features and the differential findings that allow the pathologist to distinguish between these entities with the aid of clinical, genetic, hormonal and molecular information that are characteristic for each situation. In third place, we studied the incidence of neoplasias in gonadal dysgenesis, male pseudohermaphroditism and true hermaphroditism. Finally, we discuss the limitations of gonadal biopsy to achieve a correct diagnosis in the disorders of sex development.

show abstract

True agonadism: Report of a case analyzed with Y‐specific DNA probes

Cited by 16 publications

References 10 publications

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Re: True agonadism: Report of a case analyzed with Y‐specific DNA probes

Valor de la biopsia gonadal en el diagnóstico de los desórdenes del desarrollo sexual

Contact Info

Product

Resources

About