Congenital adrenal hyperplasia: experience at intersex clinic, AIIMS.

During 1981-88, 63 cases of female pseudohermaphroditism (FPH) were seen at the Intersex clinic at AIIMS, of whom 34 (54%) were diagnosed as due to congenital adrenal hyperplasia (CAH). Though ambiguity was present at birth in most cases, only one child was brought immediately after birth, while 14 presented after one year. Family history of affected siblings and fetal wastage was present in 10. Salt wasting symptoms were present in 13 (38.2%), evidence of early virilization in 10 (29.4%) and generalised hyperpigmentation in 7 (20.6%). Clitoromegaly was present in 30 children with labial fusion in 10 and scrotalisation of labia in 6. The urogenital opening was single in 25 (73.5%). Buccal smear was positive for sex chromatin in 19. Chromosomal pattern showed 46 XX in 33. Dyselectrolytemia was present in 16 children. Bone age was advanced in all. Adrenal hyperplasia could be documented in 3 on CT scan. All the girls were put on hydrocortisone or prednisolone, and fluodrocortisone was given only to children with salt wasting CAH. Children with CAH are being brought to medical attention much too late and investigative and therapeutic facilities are grossly inadequate. There is a need to educate primary care physicians for early case detection and provide minimum diagnostic and therapeutic facilities in regional centres.

Biosynthetic growth hormone therapy in children with growth hormone deficiency: experience at AIIMS, New Delhi.

A total of 20 previously untreated children with growth hormone deficiency (GHD) were treated for one year with biosynthetic human growth hormone (hGH). The mean chronologic age was 9.43 +/- 3.52 years with a height age of 5.02 years, and bone age 9.43 +/- 3.52 (TW2-RUS) 6.42 years. The mean pretreatment growth velocity was 2.43 +/- 0.90 cm/year. Of these 14 children had complete GHD (peak GH levels less than 5 ng/ml) and 6 had partial GHD. They were treated with recombinant GH in a dose of 0.5 IU/kg/week divided into 6-7 injections per week subcutaneously at night. The mean growth velocity increased to 8.88 +/- 2.10 cm/yr at the end of 6 months and 8.00 +/- 2.21 cm/yr at 12 months. The actual gain ranged from 6-11 cm in a year. There were no local adverse reactions. One child developed vitiligo of the face and another transient hyperglycemia.

Profile of thyroid disorders in a referral centre in north India.

From 1983-88, 157 patients were investigated in our clinic for thyroid disorders: 117 (75%) were hypothyroid, 10 (6%)-hyperthyroid, and 30 had euthyroid goiters. Average age of presentation of congenital hypothyroids was 4.07 years. Children with goitrous hypothyroidism (n = 19) were divided into: (i) thyroiditis: RAIU low and patchy, TMA positive: 2 children; (ii) dyshormonogenesis: RAIU high, family history positive, perchlorate discharge test positive: 2 children; (iii) iodine deficiency: RAIU high, urinary iodine low: 2 children, and (iv) cause unknown: RAIU normal or high, other investigations normal: 13 children. Ninety eight hypothyroid children without goiter were divided into 6 groups: (i) athyreosis: RAIU low, no thyroid tissue identifiable (n = 39); (ii) hypoplasia: RAIU low, gland small, in normal position (n = 7); (iii) ectopia: RAIU low, gland in ectopic position (n = 24); (iv) thyroiditis: TMA positive (n = 2); (v) iodine deficiency: low urinary iodine (n = 1); and (vi) cause unknown: RAIU and scan normal, other investigations normal and not done (n = 8). Proportionate short stature was present in 44.4% children. Twenty two children presented only with growth failure; 72% of them had dysgenetic glands. Early onset marked the group with hyperthyroidism (n = 10). Euthyroid goiter was present in 30 (19%). Hypothyroidism is still being diagnosed very late. All children with growth failure, even if proportionate, must have thyroid status evaluated.