ABSTRACT
Adequate intake of vitamin D and calcium are fundamental for the treatment of osteoporosis. A normal vitamin D status is required for optimal intestinal calcium absorption. However, general calcium and vitamin D supplementation is not sufficient for prevention of osteoporotic fractures in persons older than 50 years. Nevertheless, vitamin D deficiency should be avoided and corrected. In particular, parts of the population with increased risk for vitamin D deficiency (immobilized or older individuals, swarthy, migrants) should be tested. Secondary causes of vitamin D deficiency should be identified and treated.
Subject(s)
Bone Density Conservation Agents , Osteoporosis , Vitamin D , Bone Density Conservation Agents/administration & dosage , Bone Density Conservation Agents/therapeutic use , Calcium/administration & dosage , Calcium/therapeutic use , Dietary Supplements , Humans , Osteoporosis/drug therapy , Osteoporosis/physiopathology , Vitamin D/administration & dosage , Vitamin D/therapeutic use , Vitamin D DeficiencyABSTRACT
Dehydroepiandrosterone (DHEA) sulfotransferase, known as SULT2A1, converts the androgen precursor DHEA to its inactive sulfate ester, DHEAS [corrected], thereby preventing the conversion of DHEA to an active androgen. SULT2A1 requires 3'-phosphoadenosine-5'-phosphosulfate (PAPS) for catalytic activity. We have identified compound heterozygous mutations in the gene encoding human PAPS synthase 2 (PAPSS2) in a girl with premature pubarche, hyperandrogenic anovulation, very low DHEAS levels, and increased androgen levels. In vitro coincubation of human SULT2A1 and wild-type or mutant PAPSS2 proteins confirmed the inactivating nature of the mutations. These observations indicate that PAPSS2 deficiency is a monogenic adrenocortical cause of androgen excess.
