Clinical_Rounds_in_Endocrinology_Volume_II_-_Pediatric_Endocrinology

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ab

c

Fig. 1.21 (a) A 13-year-old short child with isolated GH deficiency. (b) Note the cherubic face,
blue sclera, and (c) micropenis

67. What is pseudohypoparathyroidism?

Pseudohypoparathyroidism is a metabolic bone disease characterised by typical

features of Albright hereditary osteodystrophy including round facies, short stat-

ure, obesity and short metacarpals and metatarsals. Biochemiocally, high PTH

with hypocalcemia and hyperphosphatemia are unique as opposed to idiopathic

hypoparathyroidism which is characterised by low PTH. Further, basal ganglia

calcification on plain CT helps in predicting the duration of the disease. The defect

is confined to either PTH receptor or post-receptor signaling pathway. The photro-

graph given below depicts a child with pseudohypoparathyroidism (Fig. 1.22).

1 Disorders of Growth and Development: Clinical Perspectives