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Cited by 27Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

A Novel Homozygous Q334X Mutation in the HSD3B2 Gene Causing Classic 3β-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase Deficiency

Jeandron, Debra D., Sahakitrungruang, Taninee·2012·Hormone Research in Paediatrics
DOI 10.1159/000336004
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Abstract

BACKGROUND: 3β-hydroxysteroid dehydrogenase (3βHSD) type 2 (encoded by HSD3B2) is expressed in the adrenals and gonads. HSD3B2 mutations cause the rare form of congenital adrenal hyperplasia '3βHSD deficiency'. In its classic form, affected individuals have salt wasting early in infancy and may have ambiguous genitalia in both sexes. The presence of peripheral type 1 3βHSD often complicates the hormonal diagnosis of this disorder, in that very high 17α-hydroxypregnenolone levels can be converted extra-adrenally to 17α-hydroxyprogesterone (17OHP). PATIENT AND METHODS: A 46,XX female newborn with no signs of virilization was referred for evaluation of positive 17OHP newborn screening, and developed a salt-wasting crisis at 13 days of age. The confirmatory test revealing highly elevated 17OHP suggested a 21-hydroxylase deficiency, but sequencing of the CYP21A2 gene was not consistent. Further family history suggested a 3βHSD deficiency. The HSD3B2 gene was then sequenced. RESULTS: The patient was homozygous for the novel nonsense mutation Q334X in the HSD3B2 gene, inherited from both parents. CONCLUSIONS: We report a novel mutation of the HSD3B2 gene, Q334X, responsible for a classic 3βHSD deficiency. The clinical and hormonal phenotypes can be complicated in this disorder, and this supports the benefits of 17OHP newborn screening to detect various forms of congenital adrenal hyperplasia.

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  • The low Km of hepatic HSD3B1 permits it to convert some of the elevated 17OH-Preg to 17OHP, engendering false positives in newborn screening programs for 21OHD.

    “The low Km of hepatic HSD3B1 permits it to convert some of the elevated 17OH-Preg to 17OHP, engendering false positives in newborn screening programs for 21OHD (58).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [58]

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Authors
Jeandron, D. D., & Sahakitrungruang, T.
Affiliations
  • University of Southern California (US)
  • Chulalongkorn University (TH)
ORCID
Sahakitrungruang, Taninee
Venue
Hormone Research in Paediatrics
Publisher
S. Karger AG
Published
2012
Volume
77
Issue
5
Pages
334-338
ISSN
  • 1663-2818 (ISSN-L)
  • 1663-2826
DOI
10.1159/000336004
OpenAlex
W1975504419
Cited by
27
References
20
Citations by year
2026: 1 · 2025: 1 · 2023: 1 · 2022: 1 · 2021: 4 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 1 · 2016: 2 · 2015: 6 · 2014: 2 · 2013: 1
FWCI
1.16
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Hormone Research in Paediatrics (publishedVersion)
  • PubMed (publishedVersion)
Funders
Thailand Research Fund
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 › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
HSD3B2, 3β-hydroxysteroid dehydrogenase deficiency, congenital adrenal hyperplasia, novel mutations, 17-hydroxyprogesterone, 21-hydroxylase deficiency, salt-wasting crisis, newborn screening, 17-hydroxypregnenolone, ambiguous genitalia
MeSH terms
Adrenal Hyperplasia, Congenital, Female, Humans, Infant, Newborn, Progesterone Reductase, Steroid 21-Hydroxylase, Neonatal Screening, Codon, Nonsense

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