Short stature due to GHSR deficiency

Orpha code: 314811OMIM code: 615925

Definition

Short 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.

Disease data
Classification

Disease

Synonyms
Ghrelin receptor deficiency
Niski wzrost z powodu niedoboru receptora dla substancji uwalniajacych GH
Short stature due to growth hormone secretagogue receptor deficiency
ORPHA code
314811
OMIM code
615925
ICD10 code
E34.3
ICD11 code
-

No additional description.

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