Combined hypothalamic-pituitary-gonadal defect in a hypogonadic man with a novel mutation in the DAX-1 gene

We have studied a 20-yr-old male patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism (HH) due to a C to A transversion at nucleotide 825 in the DAX-1 gene, resulting in a stop codon at position 197. The same mutation was detected in his affected first cousin (adrenal hypoplas...

Full description

Saved in:
Bibliographic Details
Published in:The journal of clinical endocrinology and metabolism 1999-10, Vol.84 (10), p.3563-3569
Main Authors: CARON, P, IMBEAUD, S, BENNET, A, PLANTAVID, M, CAMERINO, G, ROCHICCIOLI, P
Format: Article
Language:English
Subjects:
Base Sequence - genetics
Biological and medical sciences
Child, Preschool
Chorionic Gonadotropin - therapeutic use
Complex syndromes
DAX-1 Orphan Nuclear Receptor
DNA-Binding Proteins - genetics
Drug Therapy, Combination
Genitalia, Male - physiopathology
Glycoprotein Hormones, alpha Subunit - metabolism
Gonadotropin-Releasing Hormone - therapeutic use
Humans
Hypogonadism - drug therapy
Hypogonadism - genetics
Hypogonadism - physiopathology
Hypothalamo-Hypophyseal System - physiopathology
Luteinizing Hormone - metabolism
Male
Medical genetics
Medical sciences
Menotropins - therapeutic use
Mutation - genetics
Mutation - physiology
Pedigree
Receptors, Retinoic Acid - genetics
Repressor Proteins
Transcription Factors - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We have studied a 20-yr-old male patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism (HH) due to a C to A transversion at nucleotide 825 in the DAX-1 gene, resulting in a stop codon at position 197. The same mutation was detected in his affected first cousin (adrenal hypoplasia congenita and HH) and in a heterozygous state in their carrier mothers. The patient had had acute adrenal insufficiency at the age of 2 yr and 6 months, bilateral cryptorchidism corrected surgically at the age of 12 yr, and failure of spontaneous puberty. Plasma testostereone (T) was undetectable (
ISSN:0021-972X
1945-7197
DOI:10.1210/jc.84.10.3563