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Absence of molecular defect in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3 beta-HSD activity.
Chang, Y T; Zhang, L; Alkaddour, H S; Mason, J I; Lin, K; Yang, X; Garibaldi, L R; Bourdony, C J; Dolan, L M; Donaldson, D L.
Afiliação
  • Chang YT; Division of Pediatric Endocrinology, University of Illinois, College of Medicine at Chicago 60612, USA.
Pediatr Res ; 37(6): 820-4, 1995 Jun.
Article em En | MEDLINE | ID: mdl-7651769
ABSTRACT
To date the molecular basis and hormonal criteria for inherited mild late-onset 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency congenital adrenal hyperplasia (CAH) have not been defined. We have thus investigated the presence or absence of mutation in the type II 3 beta-HSD gene encoding adrenal/gonadal 3 beta-HSD in each of five premature pubarche children and hirsute female patients manifesting moderately decreased adrenal 3 beta-HSD activity. ACTH-stimulated hormonal levels in all patients compared with mean levels in pubertal stage-matched normal subjects were between 2.5 and 6.5 SD for 17-hydroxypregnenolone levels, and between 2.5 and 7 SD for dehydroepiandrosterone levels in all except one patient. 17-Hydroxypregnenolone to cortisol ratios were between 2.5 and 4.3 SD, and dehydroepiandrosterone to androstenedione ratios were between 3 and 8.6 SD. The type II 3 beta-HSD gene regions of a putative promoter, exons I, II, III, and IV, and exon-intron boundaries in all subjects were amplified by polymerase chain reaction and then sequenced. All patients had normal sequences of the type II 3 beta-HSD gene in both alleles. Three female patients heterozygotic for severe 3 beta-HSD deficiency CAH with one allele mutation of the gene demonstrated normal ACTH-stimulated hormone profiles. These data indicate that moderately decreased adrenal 3 beta-HSD activity resulting in modestly increased delta 5 precursor steroid levels and delta 5 to delta 4 steroid ratios in premature pubarche and hirsute patients is not caused by a mutation in the type II 3 beta-HSD gene.(ABSTRACT TRUNCATED AT 250 WORDS)
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Mutação Puntual / Hirsutismo / 3-Hidroxiesteroide Desidrogenases Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: Pediatr Res Ano de publicação: 1995 Tipo de documento: Article País de afiliação: Estados Unidos
Buscar no Google
Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Puberdade Precoce / Mutação Puntual / Hirsutismo / 3-Hidroxiesteroide Desidrogenases Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans Idioma: En Revista: Pediatr Res Ano de publicação: 1995 Tipo de documento: Article País de afiliação: Estados Unidos