Isolated growth hormone deficiency (IGHD) is conditions associated with childhood growth failure due to lack of growth hormone (GH) action, and not necessarily associated with other pituitary hormone deficiencies or with an organic lesion. About 5-30% of patients are found to have affected first-degree relatives, suggesting genetic causes. IGHD has been classified into three types. IGHD type 1, characterized by autosomal recessive transmission, is further separated into subtypes 1A and 1B. The phenotype of IGHD type 1B is milder than that of IGHD type 1A. IGHD type 2 is inherited in an autosomal dominant pattern. IGHD type 3 is an X-linked recessive disorder with a highly variable phenotype. Some individuals have an associated agammaglobulinemia.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the pituitary hormone system
5A61 Hypofunction or certain other specified disorders of pituitary gland
H02035 Isolated growth hormone deficiency
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06518 JAK-STAT signaling
H02035 Isolated growth hormone deficiency
Endocrine system
nt06324 GHRH-GH-IGF signaling
H02035 Isolated growth hormone deficiency
