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Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay

Achermann, JC; Gu, WX; Kotlar, TJ; Meeks, JJ; Sabacan, LP; Seminara, SB; Habiby, RL; ... Jameson, JL; + view all (1999) Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay. The Journal of Clinical Endocrinology & Metabolism , 84 (12) 4497 - 4500. 10.1210/jc.84.12.4497. Green open access

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Abstract

Although delayed puberty is relatively common and often familial, its molecular and pathophysiologic basis is poorly understood. In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1. Mutations in another gene, DAX1 (AHC), cause X-linked adrenal hypoplasia congenita and HH. Affected boys usually present with primary adrenal failure in infancy or childhood and HH at the expected time of puberty.DAX1 mutations have also been reported to occur with a wider spectrum of clinical presentations. These cases include female carriers of DAX1 mutations with marked pubertal delay and a male with incomplete BH and mild adrenal insufficiency in adulthood. Given this emerging phenotypic spectrum of clinical presentation in men and women with DAX1 mutations, we hypothesized that DAX1 might be a candidate gene for mutation in patients with idiopathic sporadic or familial HH or constitutional delay of puberty. Direct sequencing of DAX1 was performed in 106 patients, including 85 (80 men and 5 women) with sporadic HH or constitutional delay of puberty and patients from 21 kindreds with familial forms of these disorders. No DAX1 mutations were found in these groups of patients, although silent single nucleotide polymorphisms were identified (T114C, G498A). This study suggests that mutations in DAX1 are unlikely to be a common cause of HH or pubertal delay in the absence of a concomitant history of adrenal insufficiency.

Type: Article
Title: Mutational analysis of DAX1 in patients with hypogonadotropic hypogonadism or pubertal delay
Open access status: An open access version is available from UCL Discovery
DOI: 10.1210/jc.84.12.4497
Publisher version: http://dx.doi.org/10.1210/jc.84.12.4497
Language: English
Additional information: © 1999 by The Endocrine Society This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/us/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Keywords: ADRENAL HYPOPLASIA CONGENITA, HORMONE DEFICIENCY, GENE-MUTATIONS, KALLMANNS-SYNDROME, JAPANESE PATIENTS, GONADAL AXIS, RECEPTOR, HETEROGENEITY, EXPRESSION, MOLECULES
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI: https://discovery.ucl.ac.uk/id/eprint/95060
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