Sex Hormone Binding Globulin Deficiency Due to a Homozygous Missense Mutation | Zendy

Michel J. Vos | Zendy; G. Sophie Mijnhout | Zendy; Jan M.M. Rondeel | Zendy; Wia Baron | Zendy; P. H. P. Groeneveld | Zendy

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Sex Hormone Binding Globulin Deficiency Due to a Homozygous Missense Mutation

Author(s) -

Michel J. Vos,

G. Sophie Mijnhout,

Jan M.M. Rondeel,

Wia Baron,

P. H. P. Groeneveld

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-2055

Subject(s) - sex hormone binding globulin , missense mutation , endocrinology , biology , medicine , mutation , genetics , hormone , gene , androgen

SHBG is known as the major sex steroid binding protein in plasma, and it regulates the bioavailability of both T and estradiol levels required for effects on target tissues. We identified a man with an undetectable SHBG concentration in combination with low total T. He presented with a 7-year history of muscle weakness, fatigue, and a low libido.

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