Clinical and etiological profile of refractory rickets from western India.

Objective: To present clinical and etiological profile of refractory rickets from Mumbai.

Methods: Case records of 36 patients presenting over 2½ y with refractory rickets were evaluated with respect to clinical presentation, biochemical, radiological features and where needed, ophthalmological examination, ultrasonography and special tests on blood and urine.

Results: Twenty three (63 %) patients had renal tubular acidosis (RTA)-distal RTA in 20 and proximal RTA in 3 patients; 5 (14 %) had vitamin D dependent rickets (VDDR I in 2 and VDDR II in 3 patients), 4 (11 %) had chronic renal failure (CRF) and 2 each (6 %) had hypophosphatemic rickets and chronic liver disease as cause of refractory rickets.

Polyglandular autoimmune syndrome-type I.

Polyglandular autoimmune syndrome type I is a rare disorder characterized by mucocutaneous candidiasis (MC), hypoparathyroidism (HP) and adrenal insufficiency , requiring regular follow up as the components of the syndrome appear at different age groups. We report a six and half year boy having this syndrome and presenting with MC, HP and ectodermal dystrophy.

Etiology and clinical profile of ambiguous genitalia an overview of 10 years experience.

One hundred nine patients presenting with ambiguous genitalia over the past 10 years (year 1995 to 2004) to Pediatric Endocrine Service of our hospital were reviewed. On the basis of clinical and investigative evaluation like hormonal and biochemical estimations, imaging studies, karyotype and invasive techniques like genitoscopy, laproscopy, open exploration and biopsy of gonads when indicated, these cases could be categorised as Genetic females with virilisation or FPH (n = 30 cases, 27.5 % Genetic males undervirilised or MPH (n = 57 cases, 52.