Tags

Type your tag names separated by a space and hit enter

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.
Pediatr Res. 1995 Jun; 37(6):820-4.PR

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)

Authors+Show Affiliations

Division of Pediatric Endocrinology, University of Illinois, College of Medicine at Chicago 60612, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

7651769

Citation

Chang, Y T., et al. "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." Pediatric Research, vol. 37, no. 6, 1995, pp. 820-4.
Chang YT, Zhang L, Alkaddour HS, et al. 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. Pediatr Res. 1995;37(6):820-4.
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. (1995). 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. Pediatric Research, 37(6), 820-4.
Chang YT, et al. 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. Pediatr Res. 1995;37(6):820-4. PubMed PMID: 7651769.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 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. A1 - Chang,Y T, AU - Zhang,L, AU - Alkaddour,H S, AU - Mason,J I, AU - Lin,K, AU - Yang,X, AU - Garibaldi,L R, AU - Bourdony,C J, AU - Dolan,L M, AU - Donaldson,D L, PY - 1995/6/1/pubmed PY - 1995/6/1/medline PY - 1995/6/1/entrez SP - 820 EP - 4 JF - Pediatric research JO - Pediatr Res VL - 37 IS - 6 N2 - 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) SN - 0031-3998 UR - https://www.unboundmedicine.com/medline/citation/7651769/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_ L2 - https://doi.org/10.1203/00006450-199506000-00024 DB - PRIME DP - Unbound Medicine ER -