A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

Context: Persistent hypercalciuria, with the attendant risk of nephrocalcinosis and eventual renal failure, is common in hypoparathyroid patients, especially those with activating mutations of the calcium-sensing receptor (CASR) gene, being treated with oral calcium and calcitriol. Treatment with replacement PTH may be warranted, although this has yet to be evaluated in children.

Objectives: The objectives of this study were to identify the cause of the disorder in a young hypocalcemic patient and to assess the efficacy of treatment of the patient with recombinant human PTH(1-34).

Prader-Willi syndrome and mosaic Turner's syndrome.

We present a female with both Prader-Willi syndrome and Turner's syndrome, a combination not previously reported. We review her clinical presentation and discuss her growth pattern, mental development, and puberty, in relation to her mosaic Turner and Prader-Willi syndromes.

Reversible infertility in a man with 21-hydroxylase deficiency congenital adrenal hyperplasia.

Objective: To report a case of an azoospermic man diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia who successfully conceived with intrauterine insemination (IUI) after hormonal and clomiphene citrate (CC) treatment.

Design: Case report.

Setting: Outpatient practice and academic hospital.