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

scholarly journals Multigeneration Inheritance through Fertile XX Carriers of anNR0B1(DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis

2012 ◽  
Vol 2012 ◽  
pp. 1-7 ◽  
Author(s):  
Michela Barbaro ◽  
Jackie Cook ◽  
Kristina Lagerstedt-Robinson ◽  
Anna Wedell
Keyword(s):  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Ovarian Function ◽  
X Chromosome Inactivation ◽  
Inheritance Pattern ◽  
Complex Phenotype ◽  
Common Region ◽  
Xy Gonadal Dysgenesis ◽  
Fertile Female ◽  
Female Carriers

A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains theMAGEBgenes and theNR0B1gene; this is the candidate for gonadal dysgenesis if overexpressed. Most patients present gonadal dysgenesis within a more complex phenotype. However, few independent cases have recently been described presenting with isolated XY gonadal dysgenesis caused by relatively smallNR0B1locus duplications. We have identified anotherNR0B1duplication in two sisters with isolated XY gonadal dysgenesis with an X-linked inheritance pattern. We performed X-inactivation studies in three fertile female carriers of three different smallNR0B1locus duplications identified by our group. The carrier mothers did not show obvious skewing of X-chromosome inactivation, suggesting thatNR0B1overexpression does not impair ovarian function. We furthermore emphasize the importance to investigate theNR0B1locus also in patients with isolated XY gonadal dysgenesis.

Accidental X-Y recombination and the aetiology of XX males and true hermaphrodites

1988 ◽  
Vol 322 (1208) ◽  
pp. 133-144 ◽  
Keyword(s):  
Sex Determination ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
X Inactivation ◽  
Predicted Amino Acid Sequence ◽  
Dna Library ◽  
Xy Gonadal Dysgenesis ◽  
Y Chromosomes ◽  
Xx Males ◽  
Synthetic Oligonucleotides

Accidental recombination between the differential segments of the X and Y chromosomes in man occasionally allows transfer of Y-linked sequences to the X chromosome leading to testis differentiation in so-called XX males. Loss of the same sequences by X-Y interchange allows female differentiation in a small proportion of individuals with XY gonadal dysgenesis. A candidate gene responsible for primary sex determination has recently been cloned from within this part of the Y chromosome by Page and his colleagues. The observation that a homologue of this gene is present on the short arm of the X chromosome and is subject to X-inactivation, raises the intriguing possibility that sex determination in man is a quantitative trait. Males have two active doses of the gonad determining gene, and females have one dose. This hypothesis has been tested in a series of XX males, XY females and XX true hermaphrodites by using a genomic probe, CMPXY1, obtained by probing a Y-specific DNA library with synthetic oligonucleotides based on the predicted amino-acid sequence of the sex-determining protein. The findings in most cases are consistent with the hypothesis of homologous gonad-determining genes, GDX and GDY , carried by the X and Y chromosomes respectively. It is postulated that in sporadic or familial XX true hermaphrodites one of the GDX loci escapes X-inactivation because of mutation or chromosomal rearrangement, resulting in mosaicism for testis and ovary-determining cell lines in somatic cells. Y-negative XX males belong to the same clinical spectrum as XX true hermaphrodites, and gonadal dysgenesis in some XY females may be due to sporadic or familial mutations of GDX .

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 Short Stature Homeobox-Containing Gene Duplication on the der(X) Chromosome in a Female with 45,X/46,X, der(X), Gonadal Dysgenesis, and Tall Stature1

2000 ◽  
Vol 85 (8) ◽  
pp. 2927-2930 ◽  
Author(s):  
Tsutomu Ogata ◽  
Tomoki Kosho ◽  
Keiko Wakui ◽  
Yoshimitsu Fukushima ◽  
Manami Yoshimoto ◽  
...  
Keyword(s):  
Gene Duplication ◽  
Short Stature ◽  
X Chromosome ◽  
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.

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