Genetic SHBG Deficiency Unmasks the Discrepancy Between Biochemical and Clinical Hypogonadism.

Xue D Manz, Michel J Vos, Ron S Booij, Rieneke Sanson, Leo H J Jacobs

Abstract readCase Reports

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Article in JCEM case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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5 authors.

Xue D ManzLaboratory for Clinical Chemistry and Hematology, Meander Medical Centre, 3813 TZ Amersfoort, The Netherlands.ORCID https://orcid.org/0000-0002-1923-3627

Michel J VosDepartment of Laboratory Medicine, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.ORCID https://orcid.org/0000-0001-9379-2219

Ron S BooijDepartment of Laboratory Medicine, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, The Netherlands.

Rieneke SansonDepartment of Internal Medicine, Meander Medical Centre, 3813 TZ Amersfoort, The Netherlands.

Leo H J JacobsLaboratory for Clinical Chemistry and Hematology, Meander Medical Centre, 3813 TZ Amersfoort, The Netherlands.ORCID https://orcid.org/0000-0002-6635-5440

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Near-absent serum SHBG influences calculated free testosterone, complicating the evaluation of suspected hypogonadism. We report a 50-year-old man with longstanding low total testosterone (147.1 ng/dL [SI: 5.1 nmol/L], reference range: 289-866 ng/dL [SI: 10.0-30.0 nmol/L]). Further laboratory testing revealed a suppressed SHBG of 2 nmol/L (reference range: 14-72 nmol/L) and remarkably normal calculated free testosterone (between 5.0 and 6.0 ng/dL [SI: 0.174-0.210 nmol/L], reference range: 4.9-15.7 ng/dL [SI: 0.160-0.700 nmol/L]). Direct equilibrium-dialysis measurement, however, revealed low free testosterone (2.9 ng/dL [SI: 0.099 nmol/L], reference range: 4.9-15.8 ng/dL [SI: 0.170-0.546 nmol/L]), establishing the diagnosis of biochemical hypogonadism. Genetic analysis demonstrated compound heterozygosity for the

Indexed as

genetic variantshypogonadismSHBGtestosterone

Identifiers

PMID41281936

DOI10.1210/jcemcr/luaf273

PMCPMC12635475

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