Endocrine Abstracts

Introduction: Pseudohypoparathyroidism type Ib are genetic diseases with transmission maternal, defined by a resistance to the action of the parathormone without resistance to the TSH. Clinical manifestations are variable and depend on the severity of hypocalcaemia. We report the case of a patient presenting with type Ib pseudohypoparathyoidia.

Observation: This is a 9-year-old child admitted for care and exploration of a severe hypocalcaemia. The patient has been followed for unlabeled laryngeal stridor since birth. We note childhood obesity. He has episodes of spasm repetitive pedal carpe with vomiting. The clinical examination demonstrates a moon faces with macroglossia. The phosphocalcic balance shows a severe hypocalcaemia at 56 mg/l with elevated phosphoremia and hypocalciuria. The parathormone dosage was high (160.6 pg/ml) with normal TSH (1.27 uIU/ml). Brain CT finds Fahr’s syndrome. X-ray of the hands finds a slight brachymetacarpy of the fourth ray. The genetic study highlights evidence of pseudohypoparathyroidism in non-transmissible somatic mosaicism. The patient received vitamin-calcium supplementation with a good clinical and biological evolution.

Discussion: Pseudohypoparathyroidism is a pathology that is sometimes difficult to diagnose, generally evoke in front of any hypocalcaemia with hyperphosphatemia and PTH high. This observation underlines the interest of thinking about pseudohypoparathyroidism in children in front of spasms in order to allow an adapted treatment allowing avoiding the occurrence of severe hypocalcaemia threatening the vital prognosis and the impact on child growth.