17β-Hydroxysteroid Dehydrogenase 3 Deficiency in Women1
Abstract
In genetic males, mutation of the 17beta-hydroxysteroid dehydrogenase 3 (17HSD3)gene that is normally expressed in the testes impairs testosterone formation and causes development of male pseudohermaphroditism. We have ascertained seven women who are sisters of men with 17HSD3 deficiency and who are either homozygotes or compound heterozygotes for the same mutations as their affected brothers. Our findings confirm the concept that women with such mutations are asymptomatic.
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Women with 17βHSD3 deficiency produce normal amounts of androgens and estrogens.
“Affected 46,XX girls are normal, and women with 17HSD3 deficiency produce normal amounts of androgens and estrogens, indicating that the human ovary still produces testosterone in the absence of 17HSD3 expression (519).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [519]
The human ovary still produces testosterone in the absence of 17βHSD3 expression.
“Affected 46,XX girls are normal, and women with 17HSD3 deficiency produce normal amounts of androgens and estrogens, indicating that the human ovary still produces testosterone in the absence of 17HSD3 expression (519).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [519]
Cites
Male pseudohermaphroditism caused by mutations of testicular 17β-hydroxysteroid dehydrogenase 3
Geissler, W. M., Davis, D. L., Wu, L., Bradshaw, K. D., Patel, S., Mendonca, B. B., Elliston, K. O., Wilson, J. D., Russell, D. W., & Andersson, S. (1994) · Nature Genetics · doi:10.1038/ng0594-34 · Cited by 570 · see citing works
Self-citationMoghrabi, N., Hughes, I. A., Dunaif, A., & Andersson, S. (1998) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.83.8.5052 · Cited by 78 · see citing works
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458 · see citing works
The role of 17 beta-hydroxysteroid dehydrogenases
Mindnich, R., Möller, G., & Adamski, J. (2004) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2003.12.006 · Cited by 354 · see citing works
Intracrine androgen biosynthesis, metabolism and action revisited
Schiffer, L., Arlt, W., & Storbeck, K.-H. (2018) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2017.08.016 · Cited by 217 · see citing works
“HSD17B3 deficiency results in disordered sex development in genetically male children (Boehmer et al., 1999; Mendonca et al., 1999).”
Androgen biosynthetic pathways in the human prostate
Luu-The, V., Bélanger, A., & Labrie, F. (2008) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2008.01.008 · Cited by 169 · see citing works
Mendonca, B. B., Inacio, M., Arnhold, I. J. P., Costa, E. M. F., Bloise, W., Martin, R. M., Denes, F. T., Silva, F. A. Q., Andersson, S., Lindqvist, A., et al. (2000) · Medicine · doi:10.1097/00005792-200009000-00003 · Cited by 139 · see citing works
Self-citation
- Authors
- Mendonca, B. B., Arnhold, I. J. P., Bloise, W., Andersson, S., Russell, D. W., & Wilson, J. D.
- Affiliations
- Universidade de São Paulo (BR)
- The University of Texas Southwestern Medical Center (US)
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1999-02
- Volume
- 84
- Issue
- 2
- Pages
- 802-804
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W1966033998
- Cited by
- 48
- References
- 2
- Citations by year
- 2025: 1 · 2023: 1 · 2020: 3 · 2019: 1 · 2018: 1 · 2017: 1 · 2016: 1 · 2015: 3 · 2014: 2 · 2013: 1 · 2012: 4
- FWCI
- 0.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5p50dk047657-10)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK52167, R01DK052167, DK 47657)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- female carriers, compound heterozygosity, homozygotes, asymptomatic carriers, testosterone production, 46,XY disorders of sex development, familial inheritance
- MeSH terms
- Adult, Female, Heterozygote, Homozygote, Humans, Infertility, Female, Isoenzymes, Male, Middle Aged, Mutation, Pedigree, Disorders of Sex Development, 17-Hydroxysteroid Dehydrogenases
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