scholarly journals Clinical and molecular genetic characteristic of 10 cases with congenital adrenal hypoplasia caused by DAX-1 gene defects

2010 ◽  
Vol 56 (2) ◽  
pp. 3-9 ◽  
Author(s):  
A N Tiul'pakov ◽  
N Iu Kalinchenko
Keyword(s):  
Genetic Analysis ◽  
Adrenal Insufficiency ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Genetic Characteristic ◽  
Congenital Adrenal Hypoplasia ◽  
Gene Defects ◽  
Adrenal Hypoplasia ◽  
The Moment

X-linked congenital adrenal hypoplasia (CAH) is one of the most widespread forms of congenital hypocortisolism in boys. The disease is caused by defects in the NR0B1 gene that encodes for DAX1 protein. CAH manifests itself largely as adrenal insufficiency in young children and hypogonadotropic hypogonadism developing by the pubertal period. This paper describes 10 patients presenting with X-linked form of congenital adrenal hypoplasia. In six of them adrenal insufficiency was apparent during the first month of life and in the remaining four at a later time (up to the age of 13 years). Hypogonadism was diagnosed in all the patients (n=7) who reached the age of 15 by the moment of the last examination. Diagnosis of CAH was confirmed by molecular genetic analysis in all the ten cases. Nine different mutations in the NR0B1 gene were identified.

scholarly journals Clinical polymorphism of congenital X-linked adrenal hypoplasia

2009 ◽  
Vol 55 (2) ◽  
pp. 15-18
Author(s):  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Intrauterine Growth Retardation ◽  
Hypogonadotropic Hypogonadism ◽  
Primary Adrenal Insufficiency ◽  
Intrauterine Growth ◽  
Congenital Adrenal Hypoplasia ◽  
Genital Structure ◽  
Adrenal Hypoplasia ◽  
Autosomal Recessive Manner

Congenital adrenal hypoplasia is a rare clinical variant of primary adrenal insufficiency. Two forms of this disease are known, one of which is inherited in an autosomal recessive manner (including IMAGe syndrome - a combination of adrenal hypoplasia with intrauterine growth retardation, metaphysical dysplasia and abnormal genital structure, OMIM 300290), and the other has X-linked nature of inheritance (DAX-1 gene defect). X-linked adrenal hypoplasia is relatively more common and studied in more detail.Congenital X-linked adrenal hypoplasia is manifested by a combination of primary adrenal insufficiency and hypogonadotropic hypogonadism and is caused by defects in the DAX-1 gene (measurement-sensitive sex reversal, adrenal hypoplasia congenital, critical region on the X chromosome, gene-1).

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Ayberk Turkyilmaz ◽  
Atilla Cayir ◽  
Oguzhan Yarali ◽  
Erdal Kurnaz ◽  
Emine Kartal Baykan ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Rare Variants ◽  
Single Gene ◽  
Hypogonadotropic Hypogonadism ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chromosomal Anomalies ◽  
Incomplete Penetrance ◽  
Hormone Production ◽  
Variant Of Uncertain Significance

Abstract Objectives Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism (HH) cases with no chromosomal anomalies. The aim of the present study is to investigate the underlying molecular genetic etiology and the genotype-phenotype relationship of a series of patients with Hh and HH. Methods In total, 27 HH and six Hh cases were evaluated. Clinical and laboratory features are extracted from patients’ hospital files. Whole exome sequencing (WES) analysis was performed. Results A total of 27 HH cases (15 female) (mean age: 15.8 ± 2.7 years) and six Hh patients (six females) (mean age: 14.9 ± 1.2 years) were included. In molecular genetic analysis, a pathogenic/likely pathogenic variant was identified in five (two patients from the same family) of 27 HH cases (two novel) and three of the six Hh. In HH group variants (pathogenic, likely pathogenic and variant of uncertain significance) were identified in KISS1R (n=2), PROK2 (n=1), FGFR1 (n=1), HS6ST1 (n=1), GNRH1 (n=1) genes. In the Hh group, splice-site mutations were detected in DCAF17 (n=1) and MCM9 (n=2) genes. Conclusions HH and Hh cases are genetically heterogeneous diseases due to oligogenic inheritance, incomplete penetrance, and variable expressivity. We found rare variants in CHH related genes in half of our HH cases, whereas they classified as pathogenic/likely pathogenic according to ACMG criteria in only about 15% of HH cases. Using advanced genetic analysis methods such as whole-genome sequencing and long-read sequencing may increase the mutation detection rate, which should always be associated with and expert genetic counseling to interpret the data.

scholarly journals Repeated molecular genetic analysis in Brugada syndrome revealed a novel disease-associated large deletion in the SCN5A gene

2016 ◽  
Vol 2 (3) ◽  
pp. 261-264 ◽  
Author(s):  
Anders Krogh Broendberg ◽  
Lisbeth Noerum Pedersen ◽  
Jens Cosedis Nielsen ◽  
Henrik Kjaerulf Jensen
Keyword(s):  
Genetic Analysis ◽  
Brugada Syndrome ◽  
Molecular Genetic ◽  
Large Deletion ◽  
Molecular Genetic Analysis ◽  
Scn5a Gene

scholarly journals Molecular genetic analysis of a class B periplasmic-flagellum gene of Treponema phagedenis.

1992 ◽  
Vol 174 (20) ◽  
pp. 6404-6410 ◽  
Author(s):  
R J Limberger ◽  
L L Slivienski ◽  
D B Yelton ◽  
N W Charon
Keyword(s):  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Class B ◽  
Flagellum Gene
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