Prepubertal diagnosis of X-linked congenital adrenal hypoplasia presenting after infancy

X-linked congenital adrenal hypoplasia (CAH) presents classically with adrenal insufficiency within the first 6 months of life, as the fetal adrenal cortex progressively involutes. However, there is increasing recognition of delayed presentation after infancy with the need for accurate molecular dia...

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Bibliographic Details
Published in:European journal of pediatrics 2000-09, Vol.159 (9), p.671-675
Main Authors: KAH YIN LOKE, KOK SENG POH LARRY, YUNG SENG LEE, PETER, M, DROP, S. L. S
Format: Article
Language:English
Subjects:
Adrenal Insufficiency - congenital
Adrenal Insufficiency - genetics
Adrenals. Adrenal axis. Renin-angiotensin system (diseases)
Age Factors
Biological and medical sciences
Child
Child, Preschool
Endocrinopathies
Genetic Linkage
Humans
Male
Medical sciences
Non tumoral diseases. Target tissue resistance. Benign neoplasms
Pedigree
X Chromosome
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Description
Summary:X-linked congenital adrenal hypoplasia (CAH) presents classically with adrenal insufficiency within the first 6 months of life, as the fetal adrenal cortex progressively involutes. However, there is increasing recognition of delayed presentation after infancy with the need for accurate molecular diagnosis to avoid an erroneous diagnosis of other more common causes of adrenal insufficiency in childhood. We report our genetic studies of a pedigree with two affected boys presenting with late onset X-linked CAH, diagnosed by the presence of a known W171X mutation of the DAX-1 gene, in whom the mother was an obligate heterozygote. Unlike other causes of adrenal insufficiency, the significance of this diagnosis lies in the important association of hypogonadotropic hypogonadism, and the provision of accurate genetic counselling. This study demonstrates that genetic analysis for X-linked congenital adrenal hypoplasia is essential to confirm the diagnosis in prepubertal patients presenting with adrenal insufficiency after infancy.
ISSN:0340-6199
1432-1076
DOI:10.1007/PL00008404