Deleterious Missense Mutations and Silent Polymorphism in the Human 17β-Hydroxysteroid Dehydrogenase 3 Gene (HSD17B3)1
Abstract
Isozymes of 17β-hydroxysteroid dehydrogenase (17βHSD) regulate levels of bioactive androgens and estrogens in a variety of tissues. For example, the 17βHSD type 3 isozyme catalyzes the conversion of the inactive C19-steroid androstenedione to the biologically active androgen, testosterone, in the testis. Testosterone is essential for the correct development of male internal and external genitalia; hence, deleterious mutations in the HSD17B3 gene give rise to a rare form of male pseudohermaphroditism termed 17βHSD deficiency. Here, 2 additional missense mutations in the HSD17B3 gene in subjects with 17βHSD deficiency are described. One mutation (A56T) impairs enzyme function by affecting NADPH cofactor binding. A second mutation (N130S) led to complete loss of enzyme activity. Also, a single base pair polymorphism in exon 11 of the HSD17B3 gene is described. The polymorphic A allele encodes a protein with a serine rather than a glycine at position 289 (GGT → AGT). The frequency of the G allele (Gly) was 0.94, and that of the A allele (Ser) was 0.06. No difference in the frequencies of the G and A alleles was detected in 32 apparently normal women and 46 women with polycystic ovary syndrome. Enzymes bearing either glycine or serine at this position have similar substrate specificities and kinetic constants. The current findings boost to 16 the number of mutations in the HSD17B3 gene that impair testosterone synthesis and cause male pseudohermaphroditism, and add 1 apparently silent polymorphism to this tally.
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Molecular genetic testing helps to establish the diagnosis of 17βHSD3 deficiency, which has implications for management of the adolescent.
“Molecular genetic testing helps to establish the diagnosis, which has implications for management of the adolescent (518).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [518]
Children with 17βHSD3 deficiency and functional testes begin to virilize at puberty.
“As in 5␣-reductase type 2 deficiency, children with 17HSD3 deficiency and functional testes begin to virilize at puberty, and these patients sometimes adopt the male gender as adults.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [518]
Patients with 17-ketosteroid reductase deficiency harbor mutations in the HSD17B3 gene, proving the central role of this enzyme in male sexual differentiation.
“When the cDNA derived from the 67-kb gene for 17HSD3 was cloned, patients with 17-ketosteroid reductase deficiency were found to harbor mutations in this HSD17B3 gene (516 -518), proving the central role of this enzyme in male sexual differentiation.”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [518]
The presentation of 17βHSD3 deficiency is indistinguishable from that of partial androgen insensitivity syndrome or 5α-reductase type 2 deficiency, with most newborns assigned a female sex of rearing.
“The presentation is thus indistinguishable from that of partial androgen insensitivity syndrome or 5␣-reductase type 2 deficiency, with most newborns assigned a female sex of rearing (518).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [518]
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Males With 17β-Hydroxysteroid Dehydrogenase Deficiency
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- Authors
- Moghrabi, N., Hughes, I. A., Dunaif, A., & Andersson, S.
- Affiliations
- The University of Texas Southwestern Medical Center (US)
- University of Cambridge (GB)
- Pennsylvania State University (US)
- Corresponding author
- Andersson, Stefan
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1998-08-01
- Volume
- 83
- Issue
- 8
- Pages
- 2855-2860
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2041102808
- Cited by
- 78
- References
- 21
- Citations by year
- 2026: 1 · 2025: 1 · 2023: 1 · 2022: 3 · 2021: 2 · 2020: 2 · 2019: 1 · 2018: 2 · 2017: 3 · 2016: 4 · 2015: 3 · 2014: 1 · 2012: 6
- FWCI
- 1.28
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK040605, R01 DK-40605, R01DK052167, R01-DK-52167)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (T32 HD07190, T32HD007190)
- 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
- HSD17B3, missense mutations, silent polymorphism, 46,XY disorders of sex development, testosterone production, enzyme activity loss, polycystic ovary syndrome, androgen production, genotype-phenotype correlation
- MeSH terms
- Adolescent, Base Composition, Child, DNA, Female, Glycine, Humans, Male, Mutation, Polycystic Ovary Syndrome, Polymorphism, Genetic, Serine, Disorders of Sex Development, 17-Hydroxysteroid Dehydrogenases, Polymerase Chain Reaction, Mutagenesis, Site-Directed, Sequence Analysis, DNA, Polymorphism, Single-Stranded Conformational
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