5 α-reductase type 2 deficiency: response to dihydrotestosterone gel.

5α-reductase (5α-R) deficiency is an important cause of ambiguious genitalia in genetic males; however therapeutic experience in literature is limited. In this report authors describe a child with 46 XY Disorder of Sexual Differentiation (DSD), due to 5α-reductase deficiency, who was managed with Dihydrotestosterone (DHT) gel.

Prevalence and functional significance of 25-hydroxyvitamin D deficiency and vitamin D receptor gene polymorphisms in Asian Indians.

Background: Recent studies show a wide prevalence of hypovitaminosis D in Asian Indians.

Objective: The objective was to assess the functional significance of 25-hydroxyvitamin D [25(OH)D] deficiency, vitamin D receptor (VDR) gene, and parathyroid hormone (PTH) gene polymorphisms in relation to bone mineral density (BMD) in urban Asian Indians.

Design: Serum total calcium, inorganic phosphorus, alkaline phosphatase, 25(OH)D, intact PTH, and BMD at lumbar spine, proximal femur, and forearm were measured in 105 adult subjects.

Polymorphisms at +49A/G and CT60 sites in the 3' UTR of the CTLA-4 gene and APECED-related AIRE gene mutations analysis in sporadic idiopathic hypoparathyroidism.

Autoimmune diseases such as Graves' disease and type 1 diabetes have been linked with +49A/G and CT60 single nucleotide polymorphisms (SNPs) in the 3' UTR of the cytotoxic T-lymphocyte antigen-4 (CTLA-4) gene. Both these SNPs are functionally relevant and linked with T-lymphocyte activation. Hypoparathyroidism is seen in 70% of patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy syndrome (APECED).