Short Stature Due to Endocrine Disorders

Growth hormone deficiency is by far the most common hormonal cause of short stature. Its cause may lie anywhere along the hypothalamic−pituitary−end-organ axis and may be either congenital or acquired. The resulting clinical picture is known as
pituitary dwarfism and is characterized by proportionate short stature due to growth delay that is already manifest in early childhood. The patient’s bone age is substantially delayed, there is mild truncal obesity, and the face is doll-like. Intelligence is normal. Hypothalamic causes of GH deficiency include a congenital deficiency of GHRH (growth hormone releasing hormone), hypothalamic tumors such as craniopharyngioma, dysgerminoma, and neurofibroma, postinfectious states (meningitis), histiocytosis X, hydrocephalus, and prior cranial radiotherapy.

Primary pituitary disorders causing GH deficiency (pituitary hypoplasia or aplasia, isolated GH deficiency) are associated with further congenital defects such as midline defects, optic nerve hypoplasia, cleft lip, jaw, palate, etc. Other causes of pituitary dysfunction include trauma, intrasellar tumors, and local inflammatory processes.

Congenital or acquired growth hormone resistance causes inadequate production of insulinlike growth factor (IGF)-1 and therefore results in the clinical picture of growth hormone deficiency. Laron dwarves have a genetic defect of the GH receptor, or else a post-receptor defect, with an autosomal recessive inheritance pattern. The plasma GH concentration is elevated and the IGF-1 concentration is low. The affected children are abnormally small at birth and have a tendency to hypoglycemia. Pygmies have a congenital IGF-1 deficiency (their GH levels are normal). Severe liver disease can impair IGF-1 production and thereby lead to short stature.

Other endocrine causes of short stature include congenital or acquired hypothyroidism in childhood, Cushing syndrome or the exogenous administration of glucocorticoids (including topical application) in childhood (e. g., to treat asthma or eczema), pseudohypoparathyroidism, vitamin D deficiency, rickets, X-linked hypophosphatemia, Fanconi syndrome, and poorly controlled diabetes mellitus (catabolic state with delayed growth).