Normal gestation and diminished androgen responsiveness in an untreated patient with 21-hydroxylase deficiency.

Abstract

A 22-year-old woman with 21-hydroxylase deficiency but minimal clinical evidence of androgenization was studied. She had conceived twice and had borne a normal male infant without therapy of any kind. The diagnosis of 21-hydroxylase deficiency was substantiated by the findings of 17-ketosteroid and pregnanetriol excretions of 18.1 and 8.1 mg/24 hours, respectively. Adequate basal compensation was indicated by a fasting plasma cortisol of 17.5 mug/dl. Plasma ACTH (207 pg/ml), testosterone (216 ng/dl) delta4-androstenedione (649 mg/dl), progesterone (249 ng/dl) and 17alpha-hydroxyprogesterone (4820 ng/dl) were all significantly elevated.

• Authors: S B Leichter, L S Jacobs
• Journal: The Journal of clinical endocrinology and metabolism (J Clin Endocrinol Metab) Vol. 42 Issue 3 Pg. 575-82 (Mar 1976) ISSN: 0021-972X [Print] United States
• PMID: 176172 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Androgens
• Estrogens
• Receptors, Cell Surface
• Dihydrotestosterone
• Testosterone
• Dexamethasone
• Adrenocorticotropic Hormone
• Steroid Hydroxylases

Topics

• Adrenal Hyperplasia, Congenital (blood)
• Adrenocorticotropic Hormone (blood, pharmacology)
• Adult
• Androgens (blood)
• Binding Sites (drug effects)
• Dexamethasone (pharmacology)
• Dihydrotestosterone (blood)
• Estrogens (pharmacology)
• Female
• Humans
• Infant, Newborn
• Infertility, Female (blood)
• Male
• Parity
• Pregnancy
• Receptors, Cell Surface (drug effects)
• Steroid Hydroxylases (deficiency)
• Testosterone (blood)
• Virilism (blood)