In:
Hormone Research in Paediatrics, S. Karger AG, Vol. 59, No. 6 ( 2003), p. 281-284
Abstract:
〈 i 〉 Objective: 〈 /i 〉 To describe the clinical, biological and molecular data in a large Egyptian kindred with 5α-reductase deficiency. 〈 i 〉 Patients and Methods: 〈 /i 〉 Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing and restriction site analysis were applied for patient and family study. 〈 i 〉 Results: 〈 /i 〉 A homozygous alanine to glutamic acid substitution at position 62 (A62E) was found in the three patients. The parents and two XX sisters were heterozygous while a third XX sibling was normal. 〈 i 〉 Conclusion: 〈 /i 〉 We report a new mutation of the 5α-reductase type 2 gene. The presence of this mutation in all studied patients and their parents suggests its causative role in 5α-reductase deficiency. Identification of the mutation enabled genetic counselling for three XX individuals.
Type of Medium:
Online Resource
ISSN:
1663-2818
,
1663-2826
Language:
English
Publisher:
S. Karger AG
Publication Date:
2003
detail.hit.zdb_id:
2540224-9
