11β-Hydroxysteroid Dehydrogenase Type 1 Deficiency (‘Apparent Cortisone Reductase Deficiency’) in a 6-Year-Old Boy
| Autor: | Artur Bossowski, Tomasz Romer, Maria D. Urban, Ewa M. Małunowicz |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
endocrine system medicine.medical_specialty Endocrinology Diabetes and Metabolism Cortisone Reductase Puberty Precocious Dehydrogenase Dexamethasone Diagnosis Differential Endocrinology 11β-hydroxysteroid dehydrogenase type 1 Age Determination by Skeleton Internal medicine 11-beta-Hydroxysteroid Dehydrogenase Type 1 medicine Humans Child Glucocorticoids Growth Disorders biology business.industry Hyperandrogenism Hydroxysteroid Dehydrogenases Adrenal Hyperandrogenism Cortisone reductase deficiency medicine.disease Pediatrics Perinatology and Child Health biology.protein Cortisone business Metabolism Inborn Errors hormones hormone substitutes and hormone antagonists medicine.drug |
| Zdroj: | Hormone Research in Paediatrics. 59:205-210 |
| ISSN: | 1663-2826 1663-2818 |
| Popis: | Objective: We present the 1st case of prepubertal hyperandrogenism because of a defect in the conversion of cortisone (E) to cortisol (F) by hepatic11β-hydroxysteroid dehydrogenase type 1. Methods and Results: Clinical and anthropometric data were obtained. Serum androgens and gonadotropins with luteinizing hormone releasing hormone stimulation test, dexamethasone suppression test, and corticotropin-releasing hormone stimulation test were evaluated. Adrenal imaging and urinary steroid profiling by gas chromatography/mass spectrometry were employed. A 6.9-year-old boy presented with precocious pubarche, height (+2.6 SD), accelerated bone age (11.5 years), and Tanner stage 2 pubic hair and genitalia. Serum androgen levels were elevated and dexamethasone suppressible. Serum F was normal, but the E concentration was increased. Central precocious puberty and congenital adrenal hyperplasia were excluded. The excretion of androgen metabolites was moderately increased, but a highly increased tetrahydrocortisone (THE) and a diminished tetrahydrocortisol (THF + allo-THF) excretion was found with a [THF + allo-THF/ THE] ratio of 0.032 (normal controls 1.05 ± 0.17). The corticotropin-releasing hormone stimulation test showed an exaggerated adrenocorticotropic hormone response, suggesting a relative deficiency of F. Two months of hydrocortisone treatment (17.5 mg daily) failed to suppress androgens adequately. Treatment with dexamethasone (0.375 mg/daily) resulted in androgen suppression. Conclusions: In the case of precocious pubarche and accelerated growth, the diagnosis of 11β-hydroxysteroid dehydrogenase type 1 deficiency (‘apparent cortisone reductase deficiency’) should be considered. The diagnosis is based on determinations of urinary steroid metabolites. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|