46,XY gonadal dysgenesis: Evidence for autosomal dominant transmission in a large kindred

2002 ◽  
Vol 116A (1) ◽  
pp. 37-43 ◽  
Author(s):  
C�dric Le Caignec ◽  
Sabine Baron ◽  
Ken McElreavey ◽  
Madeleine Joubert ◽  
Jean-Marie Rival ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Xy Gonadal Dysgenesis

scholarly journals DEAH-box helicase 37 (DHX37) defects are a novel molecular etiology of 46,XY gonadal dysgenesis spectrum

2018 ◽  
Author(s):  
Thatiana E. da Silva ◽  
Nathalia L. Gomes ◽  
Antonio M. Lerario ◽  
Catherine E. Keegan ◽  
Mirian Y. Nishi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Autosomal Dominant ◽  
Genetic Diagnosis ◽  
Gonadal Development ◽  
Incomplete Penetrance ◽  
Coding Region ◽  
Xy Gonadal Dysgenesis ◽  
Testicular Regression ◽  
Molecular Etiology ◽  
Testicular Regression Syndrome

ABSTRACT46,XY gonadal dysgenesis is a heterogeneous disorder of sex development (DSD) that features abnormal gonadal development and varying degrees of undervirilization of the external genitalia, ranging from micropenis to female-like genitalia. Embryonic testicular regression syndrome (ETRS; MIM: 273250) is considered part of the clinical spectrum of 46,XY gonadal dysgenesis. Most ETRS patients present micropenis or atypical genitalia associated with a complete absence of gonadal tissue in one or both sides. In most patients with gonadal dysgenesis, the genetic diagnosis is unclear. We performed whole exome sequencing in ETRS patients and identified a rare variant, the p.Arg308Gln, in DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37) in 5 affected individuals from three unrelated families. We expanded the analysis of DHX37 coding region to additional 71 patients with 46,XY gonadal dysgenesis and identified the p.Arg308Gln and three other DHX37 missense variants (p.Arg151Trp, p.Thr304Met and p.Arg674Trp) in 11 affected members from eight distinct families (8 patients with ETRS, two with partial gonadal dysgenesis and one 46,XY DSD female patient previously gonadectomized). The p.Arg308Gln and p.Arg674Trp recurrent variants were identified in six and three families, respectively. Segregation analysis revealed sex-limited autosomal dominant inheritance in 4 families, autosomal dominant with incomplete penetrance in one family and autosomal recessive in another family. Immunohistochemical analysis of normal testes revealed that DHX37 is expressed in germ cells at different stages of maturation.This study demonstrates an expressive frequency of rare predicted to be deleterious DHX37 variants in 46,XY gonadal dysgenesis group, particularly those individuals exhibiting the ETRS phenotype (25% and 50%, respectively).Our findings indicate that DHX37 is a new player in the complex cascade of male gonadal differentiation and maintenance, thus establishing a novel and frequent molecular etiology for 46,XY gonadal dysgenesis spectrum, mainly for embryonic testicular regression syndrome.

Rotgrün-Blindheit bei einem heterogametischen Schein-Mädchen, zugleich ein Beitrag zur Genetik der heterogametischen Pseudofemininität

1957 ◽  
Vol 6 (2) ◽  
pp. 231-246 ◽  
Author(s):  
W. Lenz
Keyword(s):  
Gonadal Dysgenesis ◽  
Colour Vision ◽  
Autosomal Dominant ◽  
Cytological Diagnosis ◽  
Testicular Feminization ◽  
Autosomal Dominant Transmission ◽  
Sex Limitation ◽  
Testicular Dysgenesis ◽  
Green Sensitivity ◽  
Made In

SUMMARYBy cytological diagnosis of chromosomal sex it has been shown, that about 80 per cent of all cases of gonadal dysgenesis are genetically male. In about 8 per cent of male individuals various defects of red-green sensitivity may be expected. Deuteranopia was observed in a hetero-gametic pseudo-female with testicular dysgenesis. Tests for colour vision should be made in all patients with the syndrome of testicular feminization. From such tests a decision may be expected between sex- linked recessive and autosomal dominant transmission with sex limitation.

Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

Medicine ◽  
1991 ◽  
Vol 70 (6) ◽  
pp. 375-383 ◽  
Author(s):  
Gary D. Berkovitz ◽  
Patricia Y. Fechner ◽  
Howard W. Zacur ◽  
John A. Rock ◽  
Howard M. Snyder ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis

scholarly journals Swyer Syndrome

2020 ◽  
Vol 11 (3) ◽  
pp. 65-68
Author(s):  
G. R. Gazizova ◽  
F. V. Valeeva ◽  
M. R. Shaydullina ◽  
E. I. Akbirova
Keyword(s):  
Gonadal Dysgenesis ◽  
Clinical Observation ◽  
Clinical Symptoms ◽  
Objective Data ◽  
Xy Gonadal Dysgenesis ◽  
Swyer Syndrome ◽  
Swyer’S Syndrome

A clinical observation of a patient with Swyer's syndrome is presented. The article presents anamnesis data, phenotypic signs, clinical symptoms and objective data of the patient, the results of instrumental and hormonal studies, on the basis of which doctors of different specialties may suspect a violation of sex formation with XY gonadal dysgenesis.

The importance of determining karyotype in premenarchal females with gonadal dysgerminoma: two case reports

1991 ◽  
Vol 1 (3) ◽  
pp. 141-143 ◽  
Author(s):  
M. A. Steller ◽  
J. T. Soper ◽  
C. A. Szpak ◽  
J. T. Lanman ◽  
D. L. Clark-Pearson
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Surgical Management ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Normal Appearance ◽  
Xy Gonadal Dysgenesis ◽  
Nulliparous Women ◽  
Female Genital ◽  
Cell Malignancy

Gonadal dysgerminomas developed in two girls, aged 12 and 15 years. Both were initially treated with conservative unilateral gonadectomy. Forty-six, XY gonadal dysgenesis was not suspected in either patient due to the normal appearance of the contralateral gonads and internal female genital organs. One died of a second germ cell malignancy which developed in the contralateral ovary 9½ years later. The diagnosis of 46, XY gonadal dysgenesis was established by karyotype in both patients. Although conservative surgical management is desirable for nulliparous women with unilateral dysgerminomas, the presence of 46, XY gonadal dysgenesis should be suspected in all premenarchal girls with ovarian germ cell malignancies. If karyotyping reveals the presence of an Y chromosome, bilateral gonadectomy is indicated because of the risk that another neoplasm may develop in the contralateral ovary.

scholarly journals A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

2018 ◽  
Vol 12 (4) ◽  
pp. 191-195 ◽  
Author(s):  
Erkut Ilaslan ◽  
Pierre Calvel ◽  
Dominika Nowak ◽  
Maria Szarras-Czapnik ◽  
Jolanta Slowikowska-Hilczer ◽  
...  
Keyword(s):  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis
Sign in / Sign up

Export Citation Format

Share Document