Classical and Molecular Cytogenetics of Disorders of Sex Development in Domestic Animals

2009 ◽  
Vol 126 (1-2) ◽  
pp. 110-131 ◽  
Author(s):  
D.A.F. Villagómez ◽  
P. Parma ◽  
O. Radi ◽  
G. Di Meo ◽  
A. Pinton ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Molecular Cytogenetics ◽  
Domestic Animals ◽  
Sex Development

Clinical and Molecular Cytogenetic Characteristics of Five Cases with Isodicentric Y Chromosome

2021 ◽  
pp. 1-9
Author(s):  
María C. Manotas ◽  
Mary García-Acero ◽  
Daniel M. González ◽  
Olga M. Moreno ◽  
Fernando Suárez-Obando ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Disorders Of Sex Development ◽  
Molecular Cytogenetics ◽  
Ambiguous Genitalia ◽  
Disorders Of Sexual Development ◽  
Sex Development ◽  
Y Chromosomes ◽  
Probable Loss ◽  
Mosaic Form ◽  
X Cells

Isodicentric Y chromosome [idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with reproductive disorders and in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45,X cell line. These chromosomes are highly unstable during mitosis due to the presence of 2 centromers, which explains their probable loss in early mitosis or mitosis of the embryo and therefore the presence of the 45,X line. It has been hypothesized that the proportion of 45,X cells in various tissues probably influences the phenotypic sex of individuals carrying an idic(Y) chromosome, ranging from infertile men, hypospadias, ambiguous genitalia, and Turner syndrome to sex reversal. In this article we present 5 cases of patients with idic(Y) referred for suspected disorder of sex development (DSD), 3 with a male assignment and 2 with a female assignment. All cases have variable clinical characteristics, which were assessed by the transdisciplinary group of Disorders of Sex Development of the Hospital Universitario San Ignacio, Bogotá, Colombia. Patients were analyzed by conventional and molecular cytogenetics using high-resolution G-band and FISH techniques. Our findings highlight the importance of cytogenetic studies in the diagnosis of DSD patients.

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Kazuhisa Akiba ◽  
Keiko Aso ◽  
Yukihiro Hasegawa ◽  
Maki Fukami
Keyword(s):  
Disorders Of Sex Development ◽  
Reference Value ◽  
Ambiguous Genitalia ◽  
Chinese Patients ◽  
Sex Development ◽  
Liquid Chromatography Tandem Mass ◽  
Exon 1 ◽  
Genome Analyses ◽  
Immune Assays

Abstract Objectives 5α-reductase type 2 deficiency due to biallelic SRD5A2 variants is a common form of 46,XY disorders of sex development. Case presentation A Chinese neonate presented with ambiguous genitalia. He carried a homozygous likely_pathogenic SRD5A2 variant (c.650C>A, p.A217E). His apparently nonconsanguineous parents were heterozygotes for the variant. The variant has previously been identified in two Chinese patients. Our patient carried 14.2 Mb loss-of-heterogeneity regions distributed in the genome. The SRD5A2 variant in this family was invariably coupled with two polymorphisms in exon 1 and intron 1. In the patient, blood testosterone (T)/5α-dihydrotestosterone (5αDHT) ratios were elevated before and during mini puberty, and were higher when measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) than measured by conventional immune assays. Conclusions This study provides evidence for the founder effect of an SRD5A2 variant. Furthermore, our data indicate that there is a need to establish a new reference value for T/5αDHT ratios using LC-MS/MS.

scholarly journals Prenatal management of disorders of Sex development

2012 ◽  
Vol 8 (6) ◽  
pp. 576-584 ◽  
Author(s):  
Lyn S. Chitty ◽  
Pierre Chatelain ◽  
Katja P. Wolffenbuttel ◽  
Yves Aigrain
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Prenatal Management
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