Tension-Sided Femoral Neck Stress Fracture in an Adolescent with Vitamin D Deficiency and Osteomalacia: A Case Report.

CASE: An adolescent girl presented with groin pain without any history of trauma. Imaging showed a tension-sided stress fracture of the femoral neck. Vitamin D deficiency (VDD), and raised alkaline phosphatase and parathyroid hormone levels were found. Pain relief was not achieved with nonoperative treatment. Considering the risk of fracture progression and displacement, the fracture was fixed with cannulated cancellous screws. Fracture healed without any complications. CONCLUSION: A tension-sided femoral neck stress fracture, with VDD and osteomalacia, is a rare cause of hip pain in an adolescent. Surgical fracture stabilization is necessary in addition to medical treatment.

Molecular genetics of growth hormone deficient children: correlation with auxology and response to first year of growth hormone therapy.

BACKGROUND: With the paucity of available literature correlating genetic mutation and response to treatment, we aimed to study the genetic makeup of children with growth hormone (GH) deficiency in Western India and correlate the mutation with auxology and response to GH treatment at end of 1 year. METHODS: Fifty-three (31 boys and 22 girls) children with severe short stature (height for age z-score <-3) and failed GH stimulation test were studied. Those having concomitant thyroid hormone or cortisol deficiencies were appropriately replaced prior to starting GH treatment. A magnetic resonance imaging (MRI) brain scan was done in all. Genetic mutations were tested for in GH1, GHRH, LHX3, LHX4 and PROP1, POU1F1 and HESX1 genes. RESULTS: Mean age at presentation was 9.7±5.1 years. Thirty-seven children (Group A) had no genetic mutation detected. Six children (Group B) had mutations in the GH releasing hormone receptor (GHRHR) gene, while eight children (Group C) had mutation in the GH1 gene. In two children, one each had a mutation in PROP1 and LHX3. There was no statistically significant difference in baseline height, weight and BMI for age z-score and height velocity for age z-score (HVZ). HVZ was significantly lower, post 1 year GH treatment in the group with homozygous GH1 deletion than in children with no genetic defect. CONCLUSIONS: Response to GH at the end of 1 year was poor in children with the homozygous GH1 deletion as compared to those with GHRHR mutation or without a known mutation.

Relationship of insulin-like growth factor 1 and bone parameters in 7-15 years old apparently, healthy Indian children.

OBJECTIVE: Growth hormone through insulin-like growth factor 1 (IGF-1) plays an important role in both bone growth and mineralization. This cross-sectional study was carried out to evaluate the relationship between serum IGF-1 concentrations and dual energy X-ray (DXA) measured whole body less head bone area (BA), lean body mass (LBM), and bone mineral content (BMC). METHODS: One hundred and nineteen children (boys = 70, age = 7.3-15.6 years) were studied for their anthropometric parameters by standard methods and bone and body composition by DXA. Their fasting serum IGF-1 concentrations were assessed by enzyme-linked immunosorbent assay and Z-scores were calculated using available reference data. Bone and body composition parameter Z-scores were calculated using ethnic reference data. RESULTS: Mean age of the boys and girls was similar (11.5 ± 1.8 years). The mean serum IGF-1concentrations and IGF-1 Z-scores were similar (P > 0.1) between boys and girls and were of the order of (302.3 ± 140.0 and - 1.4 ± 1.1, respectively). The LBM for age and BA for age Z-score was greater in children with IGF-1 Z-score > median than children with IGF-1 Z-score < median. The mean BMC for age Z-scores were 0.4 ± 0.9 and - 0.2 ± 0.8 in children with above and below the median of IGF-1 Z-score (P > 0.1). CONCLUSION: Serum IGF-1 levels were more strongly associated with BA and LBM, suggesting that its effect on bone is greater with respect to periosteal bone acquisition and through its effect on muscle mass.

Clinical features and endocrine profile of Laron syndrome in Indian children.

INTRODUCTION: Patients with growth hormone (GH) insensitivity (also known as Laron syndome) have been reported from the Mediterranean region and Southern Eucador, with few case reports from India. We present here the clinical and endocrine profile of 9 children with Laron syndrome from India. MATERIAL AND METHODS: Nine children diagnosed with Laron syndrome based on clinical features of GH deficiency and biochemical profile suggestive of GH resistance were studied over a period of 5 years from January 2008 to January 2013. RESULTS AND DISCUSSION: Age of presentation was between 2.5-11.5 years. All children were considerably short on contemporary Indian charts with mean (SD) height Z score -5.2 (1.6). However, they were within ± 2 SD on Laron charts. No child was overweight [mean (SD) BMI Z score 0.92 (1.1)]. All children had characteristic facies of GH deficiency with an added feature of prominent eyes. Three boys had micropenis and 1 had unilateral undescended testis. All children had low IGF-1 (<5 percentile) and IGFP-3 (<0.1 percentile) with high basal and stimulated GH [Basal GH mean (SD) = 13.78 (12.75) ng/ml, 1-h stimulated GH mean (SD) = 46.29 (25.68) ng/ml]. All children showed poor response to IGF generation test. CONCLUSION: Laron syndrome should be suspected in children with clinical features of GH deficiency, high GH levels and low IGF-1/IGFBP-3. These children are in a state of GH resistance and need IGF-1 therapy.

Issues in the diagnosis and management of disorders of sexual development.

Disorders of sexual development (DSD) are a complex group of disorders to manage, not only because the diagnosis is difficult, but also because it involves many factors related to the psychosexual well being, the social stigma associated with the disorder, confusion and reluctance on the part of medical professionals in dealing with this issue, catastrophic experience of parents of these children and difficult interpersonal relationships between parents and children born with this disorder. This brief review attempts to throw light on the recent advances in understanding and management of these disorders to help improve immediate and long term care of these patients and their families.