Steroid sulfatase deficiency and androgen activation before and after puberty
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CONTEXT: Steroid sulfatase (STS) cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone (DHEA) sulfate (DHEAS), the inactive sulfate ester of the adrenal androgen precursor DHEA. Deficient DHEA sulfation, the opposite enzymatic reaction to that catalyzed by STS, results in androgen excess by increased conversion of DHEA to active androgens. STS deficiency (STSD) due to deletions or inactivating mutations in the X-linked STS gene manifests with ichthyosis, but androgen synthesis and metabolism in STSD have not been studied in detail yet. PATIENTS AND METHODS: We carried out a cross-sectional study in 30 males with STSD (age 6-27 y; 13 prepubertal, 5 peripubertal, and 12 postpubertal) and 38 age-, sex-, and Tanner stage-matched healthy controls. Serum and 24-hour urine steroid metabolome analysis was performed by mass spectrometry and genetic analysis of the STS gene by multiplex ligation-dependent probe amplification and Sanger sequencing. RESULTS: Genetic analysis showed STS mutations in all patients, comprising 27 complete gene deletions, 1 intragenic deletion and 2 missense mutations. STSD patients had apparently normal pubertal development. Serum and 24-hour urinary DHEAS were increased in STSD, whereas serum DHEA and testosterone were decreased. However, total 24-hour urinary androgen excretion was similar to controls, with evidence of increased 5α-reductase activity in STSD. Prepubertal healthy controls showed a marked increase in the serum DHEA to DHEAS ratio that was absent in postpubertal controls and in STSD patients of any pubertal stage. CONCLUSIONS: In STSD patients, an increased 5α-reductase activity appears to compensate for a reduced rate of androgen generation by enhancing peripheral androgen activation in affected patients. In healthy controls, we discovered a prepubertal surge in the serum DHEA to DHEAS ratio that was absent in STSD, indicative of physiologically up-regulated STS activity before puberty. This may represent a fine tuning mechanism for tissue-specific androgen activation preparing for the major changes in androgen production during puberty.
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STS deficiency patients present with a decreased DHEA/DHEAS ratio, which increases to normal levels after puberty, and a slightly increased androgen activation rate as peripheral 5α-reductase activity seems to compensate for the loss of STS function.
“They present with a decreased DHEA/DHEAS ratio, which increases to normal levels after puberty, and a slightly increased androgen activation rate as peripheral 5α-reductase activity seems to compensate for the loss of STS function (Idkowiak et al., 2016).”
From Intracrine androgen biosynthesis, metabolism and action revisited (2018) · cites this paper as Idkowiak et al., 2016
A study of prepubertal and postpubertal children with STS deficiency found decreased serum DHEA and testosterone compared with matched controls.
“A study exploring the serum and urine steroid metabolome in prepubertal and postpubertal children found decreased serum DHEA and T compared with matched controls (77).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
STS deficiency patients showed low DHEA/DHEAS ratios both prepubertally and postpubertally.
“The serum DHEA/DHEAS ratio reflective of global STS activity was high in prepubertal controls and decreased during the course of puberty; in contrast, STSD patients showed low DHEA/DHEAS ratios both prepubertally and postpubertally (77).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
Urinary excretion of active androgen metabolites An and Et was similar in STS deficiency and controls.
“The urinary excretion of active androgen metabolites An and Et, however, was similar in STSD and controls, possibly due to an upregulation of systemic 5α-reductase activity, as indicated by an increased urinary 5α-THF/THF ratio (77).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
The serum DHEA/DHEAS ratio, reflective of global STS activity, was high in prepubertal controls and decreased during puberty.
“The serum DHEA/DHEAS ratio reflective of global STS activity was high in prepubertal controls and decreased during the course of puberty; in contrast, STSD patients showed low DHEA/DHEAS ratios both prepubertally and postpubertally (77).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
STS deficiency is associated with an increased urinary 5α-THF/THF ratio, indicating upregulation of systemic 5α-reductase activity.
“The urinary excretion of active androgen metabolites An and Et, however, was similar in STSD and controls, possibly due to an upregulation of systemic 5α-reductase activity, as indicated by an increased urinary 5α-THF/THF ratio (77).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
Several previous studies did not find clinically significant androgen deficiency in patients with STS deficiency.
“However, several previous studies did not find clinically significant androgen deficiency in affected patients (74–78).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [77]
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Longitudinal Growth in Children With Epidermal Differentiation Disorders
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- Authors
- Idkowiak, J., Taylor, A. E., Subtil, S., O'Neil, D. M., Vijzelaar, R., Dias, R. P., Amin, R., Barrett, T. G., Shackleton, C. H. L., Kirk, J. M. W., Moss, C., & Arlt, W.
- Affiliations
- University of California, San Francisco (US)
- National Health Service (GB)
- Corresponding author
- Arlt, Wiebke
- ORCID
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-06
- Volume
- 101
- Issue
- 6
- Pages
- 2545-2553
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC4891801
- OpenAlex
- W2409254098
- Cited by
- 42
- References
- 47
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 2 · 2023: 4 · 2022: 3 · 2021: 9 · 2020: 3 · 2019: 2 · 2018: 6 · 2017: 3 · 2016: 4
- FWCI
- 2.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion, cc-by)
- Spiral (Imperial College London) (submittedVersion, cc-by)
- Funders
- Wellcome Trust (092283)
- University Hospitals Birmingham NHS Foundation Trust
- Medical Research Council (G1001964)
- 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
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal and reproductive studies
- Keywords
- steroid sulfatase deficiency, steroid sulfatase, DHEA sulfate, 5alpha-reductase activity, puberty, androgen metabolism, X-linked disorders, ichthyosis
- MeSH terms
- Adolescent, Adult, Child, Cross-Sectional Studies, Dehydroepiandrosterone, Humans, Male, Mutation, Puberty, Testosterone, Ichthyosis, X-Linked, Dehydroepiandrosterone Sulfate, Cholestenone 5 alpha-Reductase, Steryl-Sulfatase, Metabolomics, Metabolome, Young Adult, Multiplex Polymerase Chain Reaction
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