Abstract | OBJECTIVE: DESIGN: From 30 girls with premature pubarche, we selected 9 whose ACTH-stimulated 17-hydroxypregnenolone levels were elevated (> or =6 SD) and screened the HSD3B2 gene for mutations. MEASUREMENTS: All patients were submitted to a standard ACTH stimulation test. Serum steroids were measured and compared to the mean level of pubertal stage matched control subjects. The four exons and exon-intron boundaries of the HSD3B2 gene were amplified by polymerase chain reaction and screened for mutations by denaturing gradient gel electrophoresis. The fragments with abnormal migration on denaturing gradient gel electrophoresis were directly sequenced. RESULTS: A homozygous T259M mutation was identified in one girl and a new compound heterozygous G129R/P222H mutation was identified in two sisters. The highest ACTH-stimulated 17-hydroxypregnenolone levels, 147, 339 and 351 nmol/l, were found in those patients with mutations in the HSD3B2 gene. In the patients without mutations, ACTH-stimulated 17-hydroxypregnenolone ranged from 48 to 111 nmol/l. ACTH-stimulated dehydroepiandrosterone levels had an overlap among the girls with and without mutations and the normal controls. CONCLUSIONS:
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Authors | S Marui, M Castro, A C Latronico, L L Elias, I J Arnhold, A C Moreira, B B Mendonca |
Journal | Clinical endocrinology
(Clin Endocrinol (Oxf))
Vol. 52
Issue 1
Pg. 67-75
(Jan 2000)
ISSN: 0300-0664 [Print] England |
PMID | 10651755
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Isoenzymes
- 17-alpha-Hydroxypregnenolone
- Adrenocorticotropic Hormone
- 3-Hydroxysteroid Dehydrogenases
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Topics |
- 17-alpha-Hydroxypregnenolone
(blood)
- 3-Hydroxysteroid Dehydrogenases
(deficiency, genetics)
- Adrenocorticotropic Hormone
- Child
- DNA Mutational Analysis
- Female
- Humans
- Isoenzymes
(genetics)
- Mutation
- Polymerase Chain Reaction
- Puberty, Precocious
(blood, enzymology, genetics)
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