The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does “disorders of sexual development (DSD)” classification based on new Chicago consensus cover all sex chromosome DSD?

AbstractAmbiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.

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Ovotesticular disorder of sexual development due to 47,XYY/46,XY/45,X mixed gonadal dysgenesis in a phenotypic male presenting as cyclical haematuria: clinical presentation and assessment of long-term outcomes

Andrologia ◽

10.1111/and.12048 ◽

2012 ◽

Vol 46 (2) ◽

pp. 191-193 ◽

Cited By ~ 7

Author(s):

D. Dutta ◽

K. S. Shivaprasad ◽

R. N. Das ◽

S. Ghosh ◽

U. Chatterjee ◽

...

Keyword(s):

Sexual Development ◽

Gonadal Dysgenesis ◽

Clinical Presentation ◽

Long Term Outcomes ◽

Mixed Gonadal Dysgenesis ◽

Disorder Of Sexual Development ◽

Phenotypic Male

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Disorders of Sexual Development, 45, XO Gonadal Dysgenesis

Encyclopedia of Pathology ◽

10.1007/978-3-319-28845-1_4800-1 ◽

2019 ◽

pp. 1-3

Author(s):

Manuel Nistal ◽

Pilar González-Peramato

Keyword(s):

Sexual Development ◽

Gonadal Dysgenesis ◽

Disorders Of Sexual Development

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Histopathological spectrum of disorders of sexual development: a case series of seven cases

International Journal of Research in Medical Sciences ◽

10.18203/2320-6012.ijrms20202283 ◽

2020 ◽

Vol 8 (6) ◽

pp. 2303

Author(s):

Saroj Ashok Bolde ◽

Arva Ali Pirosha ◽

Sushma N. Ramraje ◽

Shubhangi V. Agale

Keyword(s):

Sexual Development ◽

Genital Tract ◽

Gonadal Dysgenesis ◽

Case Series ◽

Androgen Insensitivity Syndrome ◽

Disorders Of Sexual Development ◽

Mrkh Syndrome ◽

Primary Amenorrhoea ◽

Derivatives Of ◽

Rule Out

Disorders of sexual development (DSD) refer to cases in which there is a discordance among at least two of the following; genetic sex, gonadal sex, genital tract sex and phenotypic sex. DSDs are quite rare with reported incidence varying from 1 in 4,500 to 1 in 5,500. Ovotesticular disorder is amongst the rarest variety of DSD comprising only to 3-10% of all cases of DSD with only 500 cases reported till now worldwide. Frequency of MRKH syndrome is 1 in 4,500 cases and is the cause of amenorrhoea in 15% of cases of primary amenorrhoea. Authors present a case series of seven cases of DSDs with three cases diagnosed as androgen insensitivity syndrome, two cases of true ovotesticular DSD (true hermaphrodite), one case each of mixed gonadal dysgenesis and Mayer-Rokitansky-Kuster Hauser (MRKH) syndrome. Authors received the histopathology specimen of these cases in this department which was extensively sampled to study the gonads and the other derivatives of Mullerian and Wolffian duct and to rule out presence of any malignancy.

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Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

Sexual Development ◽

10.1159/000513415 ◽

2021 ◽

pp. 1-9

Author(s):

Octavio O. Santos-Neto ◽

Marina H. Mariano ◽

Antonia P. Marques-de-Faria ◽

Juliana G. R. Andrade ◽

Tarsis A. P. Vieira ◽

...

Keyword(s):

Down Syndrome ◽

Male Genitalia ◽

Gonadal Dysgenesis ◽

Sex Chromosome ◽

Klinefelter Syndrome ◽

Disorders Of Sex Development ◽

Androgen Insensitivity ◽

Mixed Gonadal Dysgenesis ◽

Sex Development ◽

Complete Gonadal Dysgenesis

In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Case 3: 4-month-old child with female genitalia and DS phenotype, 47,XY,+21 karyotype and XY complete gonadal dysgenesis. In the literature, among 188 patients, 107 (57%) had Klinefelter syndrome and 61 (33%) Turner syndrome, 12 (6%) had mixed gonadal dysgenesis, 2 (1%) had partial androgen insensitivity, 2 (1%) ovotesticular DSD, and the others had congenital adrenal hyperplasia, XY partial gonadal dysgenesis, XY complete gonadal dysgenesis, and complete androgen insensitivity (1 case each). A typical DS phenotype was found in all individuals of the revision, with the exception of one case, but DSD features were not always reported. In conclusion, the association of DS with sex chromosome DSD is the most frequently observed, whereas associations with 46,XX and 46,XY DSD is extremely rare.

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