Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroids.
Open Access
- 1 June 1985
- journal article
- research article
- Published by American Society for Clinical Investigation in JCI Insight
- Vol. 75 (6), 1763-1769
- https://doi.org/10.1172/jci111888
Abstract
We evaluated a family in which gynecomastia occurred in five males in two generations. In each affected subject, gynecomastia and male sexual maturation began at an early age. The ratio of the concentration of plasma estradiol-17 beta to that of plasma testosterone was elevated in each affected subject. In the three siblings with gynecomastia, the transfer constant of conversion of androstenedione to estrone (i.e., the fraction of plasma androstenedione that was converted to estrone as measured in the urine) was 10 times that of normal persons. The transfer constant of conversion of testosterone to estradiol-17 beta in the one subject studied also was 8-10 times that of normal men, whereas the transfer constants of conversion of estrone to estradiol-17 beta and of estradiol-17 beta to estrone were normal. Despite the elevation in extraglandular aromatase activity, there was a normal response of the hypothalamic-pituitary axis to provocative stimuli. This is the second documentation of gynecomastia that is associated with increased extraglandular aromatase activity, and the first time that the defect was found to be familial with a probable X-linked (or autosomal dominant, sex limited) mode of inheritance.Keywords
This publication has 22 references indexed in Scilit:
- Aromatization by Splanchnic Tissue in Men*Journal of Clinical Endocrinology & Metabolism, 1984
- Massive Extraglandular Aromatization of Plasma Androstenedione Resulting in Feminization of a Prepubertal BoyJCI Insight, 1977
- Twenty-four Hour Integrated Concentrations of Progesterone, 17-Hydroxyprogesterone and Cortisol in Normal Male SubjectsJournal of Clinical Endocrinology & Metabolism, 1977
- The Response of Pituitary Gonadotropes to a Constant Infusion of Luteinizing Hormone-Releasing Hormone (LHRH) in Normal Prepubertal and Pubertal Children and in Children with Abnormalities of Sexual DevelopmentJournal of Clinical Endocrinology & Metabolism, 1976
- Pubertal Sleep-Wake Patterns of Episodic LH, FSH and Testosterone Release in Twin BoysJournal of Clinical Endocrinology & Metabolism, 1975
- The relationship of concentrations of serum hormones to pubertal gynecomastiaThe Journal of Pediatrics, 1975
- THE NOCTURNAL RISE OF PLASMA TESTOSTERONE IN PUBERTAL BOYS.Journal of Clinical Endocrinology & Metabolism, 1974
- Secretion of Unconjugated Androgens and Estrogens by the Normal and Abnormal Human Testis before and after Human Chorionic GonadotropinJCI Insight, 1974
- Human prolactin and thyrotropin concentrations in the serums of normal and hypopituitary children before and after the administration of synthetic thyrotropin-releasing hormoneJCI Insight, 1972
- Radioimmunoassay for human luteinizing hormoneMetabolism, 1966