Open AccessBone Mineral Density and Testicular Failure: Evidence for a Role of Vitamin D 25-Hydroxylase in Human Testis
Author(s) -
Carlo Foresta,
Giacomo Strapazzon,
Luca De Toni,
Lisa Perilli,
Antonella Di Mambro,
Barbara Muciaccia,
Leonardo Sartori,
Riccardo Selice
Publication year - 2011
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.2010-1628
Subject(s) - medicine , endocrinology , vitamin d and neurology , osteopenia , osteoporosis , vitamin d deficiency , bone mineral , testosterone (patch) , biology , bone density , parathyroid hormone , calcium
Mutations in the CYP2R1 gene, highly expressed in the testis and encoding vitamin D 25-hydroxylase, result in a vitamin D deficiency and a defective calcium homeostasis leading to rickets.
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