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