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. A significant proportion of patients with RTA and VDDR showed skeletal changes of rickets in the first 2 y of life, while those with hypophosphatemic rickets presented later. Patients with hypophosphatemic rickets had predominant involvement of lower limbs, normal blood calcium and PTH levels and phosphorus leak in urine. All patients with RTA presented with failure to thrive, polyuria and marked rickets; blood alkaline phosphatase levels being normal in almost 50 % patients. Three (75 %) patients with rickets due to CRF had GFR < 30 ml/min/1.73 m(2) and hyperphosphatemia. Patients with cirrhosis due to biliary atresia had rickets inspite of taking high dose of vitamin D orally. CONCLUSIONS: Refractory rickets is a disorder of multiple etiologies; a good history and clinical examination supplemented with appropriate investigations helps to determine its cause.

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, 52.3 %), Disorders of gonadal differentiation (n = 11, 10.1 %) Nine patients with gonadal dysgenesis and 2 with true hermaphroditism and the syndromic form of ambiguous genitalia (n = 2, 1.8 %). Congenital adrenal hyperplasia (CAH) was the underlying cause in all cases of FPH, the salt wasting form in 23/30 and simple virilising form in 7. Major categories in MPH group were Androgen insensitivity syndrome in 28 % (16/57) and 5a reductase deficiency in 23% (13/57).

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.