Cited by 131Sexual Differentiation and DisordersSperm and Testicular FunctionUrological Disorders and Treatments

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Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency

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Katz, Melissa D., Kligman, Isaac, Cai, Li-Qun, Zhu, Yuan-Shan, Fratianni, Carmel M., Zervoudakis, Ioannis, Rosenwaks, Zev, Imperato-McGinley, Julianne·1997·New England Journal of Medicine

DOI 10.1056/nejm199704033361404

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Abstract

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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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
DOI: 10.1056/nejm199704033361404
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: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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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Paternity by Intrauterine Insemination with Sperm from a Man with 5α-Reductase-2 Deficiency

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