Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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Aetiology of GH deficiency

Congenital

Hypothalamic

defects

• Septo-optic
  dysplasia


• Holoprosencephaly

Pituitary

transcription

factor defects

• PROP 1


• PIT 1


• LHX 4


• PITX2

GH gene defects

• Type 1 (GH-N gene defect)


• Type 2 (abnormal GH
  molecule)


• Type 3 (bio inactive GH)

Acquired

• Sellar/suprasellar tumors


• Trauma


• Meningitis, encephalitis


• Cranial irradiation


• Langerhan’s cell
  histiocytosis

Fig. 1.19 Aetiology of growth hormone deficiency

a b

Fig. 1.20 (a) Short stature as a result of panhypopituitarism consequent to post-meningitis hydro-
cephalus. (b) Coronal FLAIR MRI showing enlarged ventricles in the same patient

1 Disorders of Growth and Development: Clinical Perspectives