NIHHNational Institute for the Hearing Handicapped (Mumbai, India)
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Based on the hypothesis that KS and nIHH may be a milder allelic variant of CHARGE syndrome, CHD7 was screened in 197 patients with KS or nIHH but devoid of CHARGE features.
Normosmic Idiopathic Hypogonadotropic Hypogonadism (nIHH) Associated Genes
Identified mutations in familial cases of nIHH has led to greater understanding of this function.
GNRHR defects produce AR, isolated nIHH, with no evidence of accompanying developmental defects such as hyposmia (65,66,67).
In a mutational screening study, only five out of 166 (3%) probands with nIHH were found to have rare variants in K1SS1R (75).
In an effort to identify novel genes playing a role in driving the HPG axis, based on autozygosity mapping (77), we identified homozygous non-synonymous mutations in the coding sequences of TAC3 or TACR3 in nine patients from four families with an nIHH phenotype (78).
Clinical reversibility, evident by spontaneous progression of puberty, often following a period of exogenous sex steroid treatment, was seen in 10% of an unselected nIHH cohort (8).