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Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens
Abstract
The aromatase enzyme complex catalyzes the conversion of androgens to estrogens in a wide variety of tissues, including the ovary, testis, placenta, brain, and adipose tissue. Only a single human gene encoding aromatase P450 (CYP19) has been isolated; tissue-specific regulation is controlled in part by alternative promoters in a tissue-specific manner. We report a novel mutation in the CYP19 gene in a sister and brother. The 28-yr-old XX proband, followed since infancy, exhibited the cardinal features of the aromatase deficiency syndrome as recently defined. She had nonadrenal female pseudohermaphrodism at birth and underwent repair of the external genitalia, including a clitorectomy. At the age of puberty, she developed progressive signs of virilization, pubertal failure with no signs of estrogen action, hypergonadotropic hypogonadism, polycystic ovaries on pelvic sonography, and tall stature. The basal concentrations of plasma testosterone, androstenedione, and 17-hydroxyprogesterone were elevated, whereas plasma estradiol was low. Cyst fluid from the polycystic ovaries had a strikingly abnormal ratio of androstenedione and testosterone to estradiol and estrone. Hormone replacement therapy led to breast development, menses, resolution of ovarian cysts, and suppression of the elevated FSH and LH values. Her adult height is 177.6 cm (+2.5 SD). Her only sibling, an XY male, was studied at 24 yr of age. During both pregnancies, the mother exhibited signs of progressive viriliza…
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“However, when treated with estrogens, aromatase-deficient subjects fuse their epiphyses and cease linear growth (545).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [545]
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Metadata
- Authors
- Morishima, A., Grumbach, M. M., Simpson, E. R., Fisher, C., & Qin, K.
- Affiliations
- Columbia University (US)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1995-12
- Volume
- 80
- Issue
- 12
- Pages
- 3689-3698
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2146408916
- Cited by
- 1,416
- References
- 5
- Citations by year
- 2026: 3 · 2025: 10 · 2024: 11 · 2023: 19 · 2022: 17 · 2021: 25 · 2020: 36 · 2019: 30 · 2018: 33 · 2017: 31 · 2016: 25 · 2015: 30 · 2014: 45 · 2013: 43 · 2012: 38
- FWCI
- 12.38
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32HD007190)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- aromatase deficiency, CYP19 gene, aromatase P450, novel mutations, pseudohermaphroditism, masculinization, polycystic ovary, hypergonadotropic hypogonadism, tall stature, macroorchidism, hormone replacement therapy, estrogen deficiency, androgen to estrogen conversion
- MeSH terms
- Adult, Aromatase, Base Sequence, Estrogens, Exons, Female, Humans, Male, Molecular Sequence Data, Nuclear Family, Pedigree, Molecular Probes, Polymerase Chain Reaction, Point Mutation, DNA, Complementary
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