Newly proposed hormonal criteria via genotypic proof for type II 3β-hydroxysteroid dehydrogenase deficiency

Journal of Clinical Endocrinology and Metabolism

Volumn 87, Issue 6, 2002, Pages 2611-2622

  Lutfallah, Chantal ^a   Wang, Weihua ^b   Ian Mason, J ^c   Chang, Ying Tai ^d   Haider, Anzar ^e   Rich, Barry ^g   Castro Magana, Mariano ^f   Copeland, Kenneth C ^a   David, Raphael ^a   Pang, Songya ^a,g  

^a UNIVERSITY OF ILLINOIS   (United States)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c Children's Hospital and Medical Center of Akron   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

^e WINTHROP UNIVERSITY HOSPITAL   (United States)

^f Children's Hospital Oklahoma City   (United States)

^g NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

17 HYDROXYPREGNENOLONE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; ANDROSTENEDIONE; CORTICOTROPIN; PRASTERONE; TETRACOSACTIDE;

ADOLESCENT; ALLELE; ARTICLE; CHILD; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED STUDY; CORTICOTROPIN RELEASE; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENITAL MALFORMATION; GENOTYPE; HIRSUTISM; HORMONE ACTION; HORMONE DETERMINATION; HUMAN; INFANT; INHERITANCE; INTRON; MAJOR CLINICAL STUDY; MALE; MENSTRUATION DISORDER; NEWBORN DISEASE; PREDICTION; PREMATURITY; PRIORITY JOURNAL; PROMOTER REGION; PUBERTY; REFERENCE VALUE; SALT LOSING NEPHRITIS;

3-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; ADRENAL GLANDS; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HORMONES; HUMANS; INFANT, NEWBORN; ISOENZYMES; MALE; METABOLISM, INBORN ERRORS; MUTATION; REFERENCE VALUES;

EID: 0036072218     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.87.6.2611     Document Type: Article

References (35)

1. 5 3β-hydroxysteroid dehydrogenase in normal hyperplastic and neoplastic adrenal cortical tissue
2. The 3β-hydroxysteroid dehydrogenase gene family of enzymes
3. Structure, function and tissue-specific gene expression of 3β-hydroxysteroid dehydrogenase/5-ene-4-ene isomerase enzymes in classical and peripheral intracrine steroidogenic tissues
4. Structure and expression of a new complementary DNA encoding the almost exclusive 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase in human adrenals and gonads
5. The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase
6. 3β-hydroxysteroid dehydrogenase deficiency follow-up study in a girl with pubertal bone age
7. Persistent testicular Δ5-isomerase-3β-hydroxysteroid dehydrogenase (Δ5-3β-HSD) deficiency in the Δ5-3β-HSD form of congenital adrenal hyperplasia
8. Nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function
9. Hypothalamic-pituitary-gonadal axis function in pubertal male and female siblings with glucocorticoid-treated nonsalt wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia
10. 5-3β-hydroxysteroid dehydrogenase deficiency
11. Congenital adrenal hyperplasia owing to 3β-hydroxysteroid dehydrogenase deficiency
12. Genetic defects of steroidogenesis in premature pubarche
13. The role of adrenocorticotropin testing in evaluating girls with premature adrenarche and hirsutism/oligomenorrhea
14. Abnormal adrenal responses to adrenocorticotropic hormone in hyperandrogenic women
15. Evidence for reduced 3β-ol-hydroxysteroid dehydrogenase activity in some hirsute women thought to have polycystic ovary syndrome
16. Late-onset adrenal steroid 3β-hydroxysteroid dehydrogenase deficiency a cause of hirsutism in pubertal and postpubertal women
17. ACTH stimulation tests and plasma dehydroepiandrosterone sulfate levels in women with hirsutism
18. Secondary biosynthetic defects in women with late-onset congenital adrenal hyperplasia
19. Late-onset steroid 21-hydroxylase deficiency: A variant of classical congenital adrenal hyperplasia
20. Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data
21. Clinical review 56. Nonclassic adrenal hyperplasia: Current concepts
22. Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene
23. Mutations in the type II 3β-hydroxysteroid dehydrogenase gene in a patient with classic salt wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia
24. Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
25. Molecular basis of congenital adrenal hyperplasia in two siblings with classical non salt-losing 3β-hydroxysteroid dehydrogenase deficiency
26. A new compound heterozygous frameshift mutation in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causes salt wasting 3β-HSD deficiency congenital adrenal hyperplasia
27. New insight in mutations in the HSD3B2 gene in eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes
28. Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene causing respectively, nonsalt wasting and salt-wasting 3βHSD deficiency disorder
29. A novel non-stop mutation in the stop codon and a novel missense mutation in type 3β-hydroxysteroid dehydrogenase (HSD) gene causing respectively non-classic and classic 3β-HSD deficiency disorder
30. Clinical assessment of body hair growth in women
31. Studies of 3β-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated Δ5-steroid levels
32. The effect of three menstrual cycle phases on adrenal hormonal dynamics and etiologies of hirsutism in five ethnic/racial female populations
33. Normal and elevated 3α-androstanediol glucoronide concentrations in women with various causes of hirsutism and its correlation with degree of hirsutism and androgen levels
34. Absence of molecular defect in the type II 3β-hydroxysteroid dehydrogenase (3β-HSD) gene in premature pubarche children and hirsute female patients with moderately decreased adrenal 3β-HSD activity
35. Mutations in the type II 3β-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls