Bone mineral status, bone turnover markers and vitamin D status in children with congenital adrenal hyperplasia.

AIM: Treatment of congenital adrenal hyperplasia (CAH) consists of lifelong glucocorticoid therapy (GT), and long-term GT may cause osteoporosis. We aim to analyse bone mineral status (BMS) and bone turnover markers in children with CAH. Methods. The study included 17 patients with CAH (mean age ± SD; 7.96± 3.58 years, range 3-13.3 years) and age-matched controls. Bone metabolism rate, vitamin D status and BMS were analyzed. Alterations in bone metabolism rate were prospectively evaluated. Results. We found that BMS Z score did not differ between the patients and control group. Vitamin D deficiency is common in groups, and osteocalcin, ß crosslaps and PTH was higher in patients than the healthy controls (5.3±3.4 vs. 3.2±1.8, P=0.036 and 2.19±1.59 vs. 1.27±0.99, P=0.049, 38.1±18.3 vs. 22.7±13.3, P=0.009, respectively). BMS Z score was only positively correlated with 17 OHP levels (r=0.462, P=0.05) and height SD Z scores (r=0.477, P=0.049). Seasonal measurements of vitamin D status, PTH levels and bone turnover markers exhibit that PTH levels, osteocalcin and ß crosslaps increase in response to low vitamin D levels. Conclusion. Children with CAH have BMS values that are not different age-matched controls. Vitamin D status should be systematically measured in CAH patients, and supplementation should be recommended in patients with low vitamin D levels.

Hypothalamic hamartoma, cerebellar hypoplasia, facial dysmorphism and very atypical combination of polydactyly: is it a new variant of oro-facio-digital syndrome?

We describe a newborn with multiple congenital anomalies consistent with an oro-facio-digital syndrome (OFDS). These are a group of inherited syndromes that have in common anomalies of the tongue (bifid or lobulated tongue with hamartomas), the face (median cleft lip) and the digits (brachydactyly, polydactyly, clinodactyly and/or syndactyly). OFDS has been classified into 11 types. The case described in this paper had manifestations overlapping with OFDS II (Mohr) and OFDS IV (Mohr-Majewski) and OFDS VI (Varadi). We propose that the present patient has a new variation of the OFDS due to the co-existence of the very atypical combination of polydactyly, cerebellar hypoplasia, hypothalamic hamartoma and classical facial findings of OFDS.

Status of selenium and antioxidant enzymes of goitrous children is lower than healthy controls and nongoitrous children with high iodine deficiency.

In order to investigate the relations of iodine deficiency and/or goiter with selenium (Se) and antioxidant enzyme (AOE) status, we determined the relevant parameters of goitrous high school children living in an endemic goiter area of Turkey. Subjects were selected by a simple random sampling technique after screening the whole population of the high schools of two towns by neck palpation. The results of the goitrous group (n = 48, aged 15-18 yr) were compared with those of nongoitrous control children (n = 49) from the same populations, and with an outside control group (n = 24) from a lower-goiter-prevalence area. The overall prevalence of goiter was 39.6% in the high school population of the area. Activities of erythrocyte AOE (glutathion peroxidase, catalase, and superoxide dismutase) and concentrations of plasma and erythrocyte Se and urinary iodine were found to be significantly lower in goitrous children than both in-region and out-region of the control groups. When the whole study group was reclassified according to the severity of iodine deficiency, it was found that the AOE and Se status of those control children without goiter but with high iodine deficiency was significantly higher than goitrous children, although they did not differ from nondeficient control group. This might be the result of the possibility that goitrous children are exposed of oxidative stress, which may introduce alterations to the antioxidant defense system and/or the antioxidant status is relatively lower in goitrous children than those children who are highly iodine-deficient but did not develop goiter. The results of this study seem to support the view that the risk of goiter development may be higher in highly iodine-deficient children with lower enzymatic antioxidant and Se status.