Short stature due to GHSR deficiency
MONDO:0014403Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Also known as: ghrelin receptor deficiency, short stature due to growth hormone secretagogue receptor deficiency, GHDP, growth hormone deficiency, isolated partial
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