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Prevalence and functional significance of 25-hydroxyvitamin D deficiency and vitamin D receptor gene polymorphisms in Asian Indians.
TLDR
Functionally significant 25(OH)D deficiency affecting B MD at the hip region is prevalent in urban Asian Indians, however, variation in BMD at the spine and forearm is related to VDR and PTH gene polymorphisms rather than to vitamin D status, at least in this hypovitaminotic D population.
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
TLDR
Lack of significant difference in the pattern of CTLA‐4 A/G49 and/or CT60A/G genotypes and absence of common APECED syndrome‐related AIRE gene mutations among patients and controls suggest that these sites do not play a role in the development of the SIH.
5 α-Reductase Type 2 Deficiency: Response to Dihydrotestosterone Gel
TLDR
A child with 46 XY Disorder of Sexual Differentiation (DSD), due to 5α-reductase deficiency, who was managed with Dihydrotestosterone (DHT) gel is described.
5 α-Reductase Type 2 Deficiency — Response to Dihydrotestosterone Gel: Authors’ Reply
TLDR
It is opine that if treatment is initiated at a young age, it may help in lessening parental anxiety and make adjustment to gender reversal smoother with less psychological stress to the patient.