Effect of testosterone and estradiol in a man with aromatase deficiency
Open accessAbstract
Recent reports of disruptive mutations of the genes for the estrogen receptor or for cytochrome P-450 aromatase1–6 have shed new light on the role of estrogen. In females the lack of estrogen due to aromatase deficiency leads to pseudohermaphroditism and progressive virilization at puberty, whereas in males pubertal development is normal. In members of both sexes epiphyseal closure is delayed, resulting in a eunuchoid habitus, and osteopenia is present.6 These findings suggest a crucial role of estrogen in skeletal maturation.1–6 We describe the responses to androgen and estrogen in a man with a novel, homozygous inactivating mutation of . . .
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Estradiol, dihydrotestosterone, and 3-alpha androstanediol have established roles in reproductive, bone, hepatic, renal, cardiovascular, dermatologic, prostatic, penile, and central nervous system functions.
“Estradiol, DHT, and the DHT product, 3-alpha androstanediol have established roles in reproductive, bone, hepatic, renal, cardiovascular, dermatologic, prostatic, penile, and central nervous system functions, among others.”
From Challenges in Testosterone Measurement, Data Interpretation, and Methodological Appraisal of Interventional Trials (2016) · cites this paper as [11]
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- Authors
- Carani, C., Qin, K., Simoni, M., Faustini-Fustini, M., Serpente, S., Boyd, J., Korach, K. S., & Simpson, E. R.
- Affiliations
- University of Modena and Reggio Emilia (IT)
- The University of Texas Southwestern Medical Center (US)
- University of Münster (DE)
- University of Pennsylvania (US)
- National Institutes of Health (US)
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1997-07-10
- Volume
- 337
- Issue
- 2
- Pages
- 91-95
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2324075496
- Cited by
- 1,151
- References
- 25
- Citations by year
- 2026: 6 · 2025: 15 · 2024: 13 · 2023: 13 · 2022: 19 · 2021: 22 · 2020: 22 · 2019: 25 · 2018: 18 · 2017: 28 · 2016: 31 · 2015: 25 · 2014: 36 · 2013: 27 · 2012: 34
- FWCI
- 16.38
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32HD007190, 5-T32 HD07190)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Estrogen and related hormone effects
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- aromatase deficiency, testosterone, estradiol, CYP19 gene, skeletal maturation, epiphyseal closure, osteopenia, androgen response, estrogen response, males
- MeSH terms
- Adult, Aromatase, Bone Diseases, Metabolic, Estradiol, Exons, Humans, Male, Metabolism, Inborn Errors, Pedigree, Testosterone, Point Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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