A patient with 22q11.2 deletion syndrome: case report.

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.

Successful results of pamidronate treatment in children with osteogenesis imperfecta with emphasis on the interpretation of bone mineral density for local standards.

AIM: To assess the long-term effect of pamidronate therapy on bone mineral metabolism and bone mineral density (BMD) in children with osteogenesis imperfecta (OI) and to evaluate BMD results with respect to national standards. METHODS: Pamidronate was administered intravenously on 3 consecutive days every 3 to 4 months at a dose of 1 mg/kg/d in 35 patients. Infusion cycles ranged from 4 to 17. Serum calcium, phosphorus, bone turnover markers, L1-L4 areal BMD (aBMD), and fracture rate were evaluated. Areal BMD Z scores were compared with national sex-specific reference data and volumetric BMD Z scores. RESULTS: In all children, linear growth continued along the same percentile during treatment. All parameters of bone turnover showed a decrease. L1 to L4 aBMD and Z score increased markedly, and fracture rate decreased in all patients during therapy. The mean annual percent gain in aBMD was highest in the first year and slowed down in subsequent years. Mean L1 to L4 aBMD Z scores according to Turkish reference data were higher than that of manufacturer values (P = 0.004). Correction of L1 to L4 vertebrae for bone size yielded to a decrease in osteoporosis in OI patients (41.5% vs 22.3%). CONCLUSIONS: Bone mineral density increased and fracture rate decreased in children and infants with OI during pamidronate treatment. Prevalence of osteoporosis decreased after correction for national standard and volumetric BMD. Use of an appropriate reference database and method of data analysis are very important for correct evaluation of osteoporosis.

Insulin resistance and body composition in preterm born children during prepubertal ages.

BACKGROUND: Premature born children may show insulin resistance in childhood which may be due to intrauterine or postnatal adverse environmental factors. OBJECTIVE: Aim of this study was to evaluate insulin resistance and body composition in preterm born children born appropriate for gestational age (AGA) or small for gestational age (SGA) and relations with IGF-I, IGFBP-3 axis. METHODS: Ninety-three preterm born children grouped as premature SGA (n = 30) and premature AGA (n = 63) were evaluated at age 4.6 +/- 0.2 years and 4.7 +/- 0.1 years with respect to their glucose, insulin, IGF-I, IGFBP-3, IGFBP-1, leptin levels and body composition by dual-energy X-ray absorptiometry. Their data were compared to that of body mass index (BMI) matched term SGA (n = 42) and term AGA (n = 44) children of age 4.5 +/- 0.2 and 3.8 +/- 0.1 years. All children had height appropriate for their target height. Insulin resistance was evaluated by basal insulin and homeostasis model assessment for insulin resistance (HOMA-IR). RESULTS: Basal insulin level was similar in preterm AGA (4.3 +/- 1.4 pmol/l) and term AGA (7.9 +/- 6.4 pmol/l) children at similar and normal BMI levels. Preterm SGA children had insulin levels (5.0 +/- 3.6 pmol/l) similar to preterm AGA children but significantly lower than that in term SGA children (23.7 +/- 20.8 pmol/l) (P = 0.001). Similar results were obtained for HOMA-IR. Term SGA children had also significantly lower IGFBP-1 levels. Body composition, leptin and IGFBP-3 did not differ between the respective groups. IGF-I was lower in preterm AGA (5.0 +/- 0.6 nmol/l) than in term AGA (8.3 +/- 1.2 nmol/l) (P < 0.001) children. CONCLUSIONS: Premature born AGA and SGA children do not have insulin resistance when compared to term children if they have made a catch-up growth appropriate for their target height and have normal BMI. The similar insulin levels in preterm SGA and preterm AGA children together with increased insulin levels in term SGA children points to the fact that it is the intrauterine restriction in the third trimester that has an adverse effect on future adverse metabolic outcome.

Follow-up height after discontinuation of growth hormone treatment in children with intrauterine growth retardation.

Growth hormone (GH) treatment has been used in children with intrauterine growth retardation (IUGR) to promote growth with success in several short- and long-term clinical trials. Intermittent GH therapy has also been advocated in children with IUGR. This study was designed to evaluate the growth of children with IUGR after discontinuation of a two-year trial of GH treatment. Sixteen children (12 F, 4 M) who had received GH (Genotropin) at age 5.3 (1.3) years at a dose of 0.2 IU/kg/day for 2 years (Group 1) and 10 (6 F, 4 M) controls of age 4.3 (1.7) years without treatment (Group 2) were followed after completion of the trial over a median period of 4 years. Height SDS of the GH-treated group showed an increase from -3.0 (0.5) to -1.9 (0.7) (p <0.001) over 2 years of therapy. Off therapy, height SDS decreased to -3.5 (0.5) at a mean age of 11.2 (1.6) years. The difference between the initial and recent height SDS in this group was significantly different (p = 0.02). Height SDS of the control group, -2.7 (1.4) initially, did not change over the two-year observation period. At follow-up, seven control children received GH in a similar fashion for one year. In spite of an insignificant increase in height SDS on one year of GH, it decreased to -2.9 (1.6) at age 11.0 (2.1) years at the latest visit. There was no significant difference between the recent heights of the two groups at final examination. One girl in Group 1 developed acanthosis nigricans and type 2 diabetes mellitus at age 13.3 years, after the follow-up period. A second patient developed osteosarcoma in the left tibia at age 9.9 years, for which she received chemotherapy and surgery. In conclusion, height SDS showed a significant increase on GH therapy for 2 years in children with IUGR; however, it decelerated after discontinuation of therapy. At the final visit, GH therapy did not seem to have had any effect on height prognosis. This finding shows that GH should be given continuously to improve final height in children with IUGR.