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Paediatric

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Endocrinology

Question
34 out of 35
 

A 15 days old baby is brought to the hospital with complains of seizures. Blood tests revealed serum Ca++= 5 mg/dL, Phosphorous levels = 9mg/dl, and PTH levels 30pg/ml (normal range= 10-60 pg/ml). What is the most probable diagnosis? (AIPG 2011)



A Pseudohypoparathyroidism

B Vitamin D deficiency

C Hyperparathyroidism

D Hypoxic ischemic Encephalopathy

Ans. A

Pseudohypoparathyroidism

(Ref. CURRENT Diagnosis & Treatment: Surgery, 13ed)

Pseudohypoparathyroidism

1. Pseudohypoparathyroidism is an X-linked autosomal syndrome due to a defective renal adenylyl cyclase system.

2. It is characterized by the clinical and chemical features of hypoparathyroidism associated with a round face; a short, thick body; stubby fingers with short metacarpal and metatarsal bones; mental deficiency; and x-ray evidence of calcification.

3. It is also associated with thyroid and ovarian dysfunction.

4. There is evidence of increased bone resorption and osteitis fibrosa cystica despite the hypocalcemia that accompanies the syndrome.

5. Patients with pseudohypoparathyroidism do not respond to intravenous administration of 200 units of parathyroid hormone with phosphaturia (Ellsworth-Howard test) and have increased serum concentrations of PTH.

6. This condition is usually controlled with smaller amounts of vitamin D than idiopathic hypoparathyroidism, and resistance to therapy is uncommon.

Endocrinology Flashcard List

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