Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

Metabolic syndrome in obese Turkish children and adolescents: comparison of two diagnostic models.

There is no consensus on whether or not the diagnostic criteria of metabolic syndrome (MS) defined for adults [National Cholesterol Education Panel (NCEP) and World Health Organization (WHO)] can be used in childhood as well. We aimed to compare prevalence of metabolic syndrome among obese children and adolescents using WHO and NCEP guidelines. A total of 112 obese children and adolescents were assessed. MS was diagnosed according to both modified WHO and NCEP criteria using cut-off values for children. Abnormal glucose homeostasis was identified in 46.6% of the subjects. Fasting glucose levels for all subjects were less than 110 mg/dl and no subjects had type 2 diabetes. Overall, dyslipidemia was present in 42.9% and hypertension in 42.9% of the subjects. While 24% of the subjects were diagnosed as MS according to NCEP, a rate of 38.8% were diagnosed according to WHO-defined MS. There was a moderate agreement between NCEP and WHO guidelines. More children were diagnosed as MS based on the WHO guidelines. This may lead to better monitoring for these children and prevention of their chronic diseases in the future. Therefore, we recommend using WHO guidelines in the diagnosis of MS with a specific emphasis on definition of abnormal glucose homeostasis.

Prevention of Vitamin D deficiency in infancy: daily 400 IU vitamin D is sufficient.

SUMMARY: AIM-OBJECTIVE: Vitamin D deficiency and rickets in developing countries continues to be a major health problem. Additionally, the increase of cases of rickets in children of some ethnic groups in the United States and European countries has provided this issue to be updated. Obviously, powerful strategies are necessary to prevent vitamin D deficiency nation-wide. In 2005, a nationwide prevention program for vitamin D deficiency was initiated, recommending 400 IU vitamin D per a day. This study was designed to evaluate the efficacy of the prevention program. METHODS: Eighty-five infants who were recalled as part of the national screening program for congenital hypothyroidism between February 2010 and August 2010 at Kocaeli University Children's Hospital were evaluated in terms of their vitamin D status as well. All babies had been provided with free vitamin D (Cholecalciferol) solution and recommended to receive 400 IU (3 drops) daily. Information regarding the age at start of supplementation, the dosage and compliance were obtained from the mothers with face-to-face interview. Serum 25-hydroxy vitamin D (25-OH-D), alkaline phosphatase (AP), parathormone (PTH) levels were measured. RESULTS: The mean age at which Vitamin D3 supplementation began was 16.5 ± 20.7 (3-120) days. Ninety percent of cases (n:76) were receiving 3 drops (400 IU) vitamin D3 per day as recommended; 70% of cases (n:59) were given vitamin D3 regularly, the remainder had imperfect compliance. Among those children who are older than 12 months, only 20% continued vitamin D supplementation. No subject had clinical signs of rickets. The mean 25-OH-D level was 42,5 ± 25,8 (median: 38.3) ng/ml. Ten subjects (12%) had their serum 25-OH-D levels lower than 20 ng/ml (6 between 15-20 ng/ml, 3 between 5-15 ng/ml and only one < 5 ng/ml). CONCLUSIONS: 400 U/day vitamin D seems adequate to prevent vitamin D deficiency. However, we believe that the program for preventing vitamin D deficiency in Turkey, needs to be reinforced to start immediately after birth, and to continue beyond 1 year of age at 400U regular daily dosage.