Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency
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Male pseudohermaphroditism results from the abnormal differentiation of male external genitalia in a genotypic male. One cause of male pseudohermaphroditism is a deficiency of 5α-reductase-2, the enzyme that converts testosterone to 5α-dihydrotestosterone in specific androgen-dependent target tissues.1–3 Males who are homozygous for the disorder usually present with pseudovaginal perineoscrotal hypospadias at birth. Most have distinct urethral and vaginal openings within a urogenital sinus and a clitoris-like phallus. Virilization occurs at puberty with phallic growth, rugation and pigmentation of the scrotum, and testicular descent.1–3 At this time, the voice deepens and muscle mass increases, with the development of a . . .
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Testosterone and dihydrotestosterone likely have differential roles and expression in various tissues, including prostate, skin, penis, and testicles.
“T and DHT also likely have differential roles and expression in various tissues, including in the prostate, skin, penis, and testicles, among others.”
From Challenges in Testosterone Measurement, Data Interpretation, and Methodological Appraisal of Interventional Trials (2016) · cites this paper as [29]
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- Authors
- Katz, M. D., Kligman, I., Cai, L.-Q., Zhu, Y.-S., Fratianni, C. M., Zervoudakis, I., Rosenwaks, Z., & Imperato-McGinley, J.
- Affiliations
- Cornell University (US)
- ORCID
- Zhu, Yuan-Shan
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1997-04-03
- Volume
- 336
- Issue
- 14
- Pages
- 994-998
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2333993541
- Cited by
- 131
- References
- 26
- Citations by year
- 2025: 3 · 2024: 3 · 2023: 16 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 6 · 2018: 4 · 2017: 1 · 2016: 10 · 2015: 6 · 2014: 4 · 2013: 6 · 2012: 2
- FWCI
- 0.59
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5f32hl009421-02)
- National Heart, Lung, and Blood Institute (HL-09421-15)
- National Center for Research Resources (M01RR 00047, M01RR000047)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
- Health Sciences › Medicine › Urology › Urological Disorders and Treatments
- Keywords
- intrauterine insemination, 46,XY disorders of sex development, dihydrotestosterone, androgen insensitivity syndrome, hypospadias, paternity, male infertility, congenital adrenal hyperplasia
- MeSH terms
- Adult, Female, Humans, Infertility, Male, Insemination, Artificial, Homologous, Isoenzymes, Male, Mutation, Pregnancy, Disorders of Sex Development, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Uterus
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