INCOMPLETE MASCULINIZATION DUE TO A DEFICIENCY OF 17β-HYDROXYSTEROID DEHYDROGENASE: COMPARISON OF PREPUBERTAL AND PERIPUBERTAL SIBLINGS
| Autor: | M. B. Hodgins, J. S. Scott, S. C. Wilson |
|---|---|
| Rok vydání: | 1987 |
| Předmět: |
Male
endocrine system medicine.medical_specialty 3-Hydroxysteroid Dehydrogenases animal structures Gonad 17-Hydroxysteroid Dehydrogenases medicine.drug_class Endocrinology Diabetes and Metabolism Disorders of Sex Development Androstenediol Dehydroepiandrosterone Genitalia Male Biology chemistry.chemical_compound Endocrinology Cytochrome P-450 Enzyme System Internal medicine Testis medicine Humans Androstenedione Hydroxysteroid dehydrogenase Child Testosterone Aldehyde-Lyases Skin Cholesterol side-chain cleavage enzyme Puberty Steroid 17-alpha-Hydroxylase medicine.anatomical_structure chemistry Child Preschool Gonadotropin |
| Zdroj: | Clinical Endocrinology. 26:459-469 |
| ISSN: | 1365-2265 0300-0664 |
| DOI: | 10.1111/j.1365-2265.1987.tb00803.x |
| Popis: | Incomplete masculinization due to a deficiency of 17 beta-hydroxysteroid dehydrogenase (17 beta-HSD) was investigated in siblings aged 4 years (Case 1) and 12 years (Case 2). Diagnosis was based on increased ratios of androstenedione (A) to testosterone (T) in blood, and impaired reduction of A to T by 17 beta-HSD in vitro in the testes. Impairment was total in Case 2 but partial in Case 1. Case 2 also showed deficient conversion of dehydroepiandrosterone (DHA) to androstenediol and of oestrone to oestradiol by 17 beta-HSD which were normal in Case 1. Oxidation of T to A by 17 beta-HSD and conversion of 17 alpha-hydroxyprogesterone to A by 17,20 desmolase were normal in the testes of both siblings. 3 beta-HSD conversion of DHA to A was normal in Case 1, but markedly increased in Case 2. In contrast to testicular findings, 17 beta-HSD reduction of A to T in genital skin fibroblasts from Case 2 was normal and diagnosis would not have been possible from studies of measurements of this enzyme in skin. The severity of the testicular 17 beta-HSD deficiency in the peripubertal compared with the prepubertal sibling suggests either considerable intra-familial variation in the extent of the enzyme defect or that puberty may aggravate this disorder. The normal reductive action of 17 beta-HSD in skin, despite impaired action in testes, suggests involvement of more than one iso-enzyme. |
| Databáze: | OpenAIRE |
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