Puberty and Pubertal Growth in Healthy Turkish Girls: No evidence for secular trend

Background: Assessment of pubertal stages should be related to updated and reliable referance data from the same background population

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

The Distribution of Exon 3-Deleted/Full-Length Growth Hormone Receptor Polymorphism in the Turkish Population

Objective: The exon 3-deleted/full-length (d3/fl) growth hormone receptor (d3/fl-GHR) polymorphism has been associated with responsiveness to GH therapy in some children and also with adult height variation in the general population. We aimed to evaluate the distribution of d3/fl-GHR polymorphism in a Turkish population

Evaluation of Permanent Growth Hormone Deficiency (GHD) in Young Adults with Childhood Onset GHD: A multicenter study

Background: Reconfirming the diagnosis of childhood onset growth hormone deficiency (GHD) in young adults is necessary to demonstrate the need for continuation of GH therapy

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children

Background: Congenital adrenal hyperplasia (CAH) due 21−hydroxylase deficiency (21−OHD) is a common autosomal recessive disorder. It is caused by defects in the CYP21A2 gene

Birth Weight in Turkish Infants

To establish population differences in birth weight and the effect of some maternal, socioeconomic and other factors, 628 mother-infant pairs in four different regions in Turkey were investigated. Mean birth weight in the total group of infants was 3252 ± 504 g. Incidence of LBW was 7%. Mean gestational age by Dubowitz scoring was 38.9 ± 1.1 weeks. Incidence of preterm birth was 17.7%. Mean maternal postpartum body weight and stature were 58.8 ± 8.7 kg and 156.0 ±5.8 cm. The frequency of underweight mothers by postpartum weight was 7.7%. This frequency was 16.1% when ponderal index was used in the assessment. Six percent (5.9%) of the mothers were of low stature. Low socioeconomic level, maternal illiteracy, adolescent pregnancy, excessive multiparity and maternal mulnutrition stood out as important factors influencing birth weight. Differences in socioeconomic level, literacy rate, frequency of adolescent pregnancies and maternal nutritional state existed between the four regions. It was concluded that the observed interregional variations in birth weight were largely due to these environmental effects. The results of the study also indicate that postpartum body weight can be used as an index in the assessment of maternal nutritional state