Cited by 115Sexual Differentiation and DisordersEstrogen and related hormone effectsMale Breast Health Studies

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The Aromatase Excess Syndrome Is Associated with Feminization of Both Sexes and Autosomal Dominant Transmission of Aberrant P450 Aromatase Gene Transcription

Stratakis, C. A.·1998·Journal of Clinical Endocrinology & Metabolism

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Abstract

Increased extraglandular aromatization has been reported as the cause of familial gynecomastia.We studied a kindred with aromatase excess inherited in an autosomal dominant manner, in which affected males had heterosexual precocity and/or gynecomastia, and affected females had isosexual precocity and/or macromastia.The propositus was a 9-yr-old boy with gynecomastia.His 7.5-yr-old sister had precocious puberty, and their father and paternal grandmother had peripubertal gynecomastia and macromastia, respectively.Serum concentrations of gonadal and adrenal steroid hormones were determined before and after the administration of corticotropin and/or hCG.Aromatase activity was determined by [ 3 H]⌬ 4 -androstenedione to [ 3 H]estrone conversion by cultured skin fibroblasts and/or Epstein-Barr virus-transformed lymphocytes and was detected by immunohistochemistry and/or Western analysis.Linkage was examined with a polymorphism of the aromatase (P450arom) gene.The P450arom messenger ribonucleic acid was analyzed by rapid amplification of complementary DNA (cDNA) ends, ribonuclease protection assay, and RT-PCR.hCG testing demonstrated a high rate of conversion of ⌬ 4 -androstenedione to estrone and of testosterone to estradiol in the propositus and his father.Treatment of the propositus and his sister was initiated with an aromatase inhibitor (testolactone) and a GnRH analog, which successfully delayed skeletal and pubertal development in both children.Markedly increased aromatase activity was found in the patients' fibroblasts and Epstein-Barr virus-transformed lymphocytes.The P450arom polymorphism segregated with the disease in the family.A new 5Ј-splice variant was present in the patients' P450arom messenger ribonucleic acid, thus identifying yet another first exon of this gene, which appears to be aberrantly expressed in this family.In conclusion, a family with the aromatase excess syndrome is described, in which the condition was inherited in an autosomal dominant manner, led to feminizing manifestations in both sexes, and was associated with the aberrant utilization of a novel transcript of the P450arom gene.(

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Authors: Stratakis, C. A.
Affiliations: University of Maryland, Baltimore (US)
Corresponding author: Stratakis, C. A.
ORCID: Stratakis, C. A.
Venue: Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 1998-04-01
Volume: 83
Issue: 4
Pages: 1348-1357
ISSN: 0021-972X (ISSN-L)
DOI: 10.1210/jc.83.4.1348
OpenAlex: W4242130592
Cited by: 115
References: 44
Citations by year: 2026: 1 · 2025: 2 · 2024: 1 · 2023: 2 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 6 · 2017: 1 · 2016: 4 · 2015: 2 · 2014: 5 · 2013: 7 · 2012: 4
FWCI: 1.86
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
Funders: National Institutes of Health
National Cancer Institute (R01CA062483)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
Health Sciences › Medicine › Oncology › Male Breast Health Studies
Keywords: aromatase, cytochrome P450 aromatase, autosomal dominant inheritance, gynecomastia, precocious puberty, macromastia, feminization, aberrant gene expression, aromatase inhibitors, testolactone, GnRH analogues, family studies, genetic linkage

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The Aromatase Excess Syndrome Is Associated with Feminization of Both Sexes and Autosomal Dominant Transmission of Aberrant P450 Aromatase Gene Transcription

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