Severe Short Stature: an unusual finding in lipoid proteinosis

Lipoid proteinosis (LP) is a rare disorder and it can affect every organ in the body. The clinical manifestations of LP may vary considerably between affected individuals. Short stature is reported in patients with LP however the underlying etiology is not clear. Short stature may be due to endocrine dysfunction caused by deposition of hyaline−like material in endocrine glands. We investigated a 13 year old patient with LP (507 delT mutation) who had severe short stature. He had hoarseness since the age of one year, followed by characteristic skin lesions for LP and short stature. There was no pathology with respect to endocrinological investigations in our patient including growth hormone−IGF axis. Our results show that short stature in LP can not be explained by endocrinological abnormalities. Short stature may be an intrinsic component of the syndrome

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

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

Relationships between Some Maternal Factors and Pregnancy Outcome

The impact of some maternal factors on birth weight and on length of gestation was investigated in a group of Istanbul women of low socioeconomic level and their infants. Reported values for prepregnancy body weight and postpartum measurements of stature, weight, mid-upper arm circumference showed that the women in this series did not have caloric undernutrition, while nearly 9% were of low stature. Anthropomet­ric measurements of the infants, the frequency of low birth weight (LBW) and of small for gestational age births agreed with those reported for affluent societies. Maternal stature, postpartum body weight and postpartum weight/height2 values were found to be important determinants of birth weight. Frequency of preterm births was relatively high, but not found to be related to maternal stature, weight/height2 ratio or mid-upper arm circum­ference. A higher frequency of LBW was found among infants of hyperten­sive mothers. Smoking during pregnancy encountered in a small number of women in this series could not be shown to have a significant effect on birth weight. Low birth weight, preterm birth and fetal malnutrition are among major risk factors influencing perinatal, neonatal and postneonatal mor­tality and morbidity. Global figures indicate a high incidence of low birth weight (LBW) babies for developing countries. It is also reported that the majority of LBW babies in such countries are born at term, the state of fetal malnutrition being mainly due to poor maternal health and nutrition before or during pregnancy (Bergner and Susser 1970; Hytten and Leitch 1971; National Center for Health Statistics 1972; Malcolm 1974; Metcoff 1978; World Health Statistics Quarterly 1980; Shah 1983).Information on birth weight, incidence of LBW and of preterm births are not included in the official health statistics in Turkey. Limited studies indicate that mean birth weight in Turkish infants is comparable to Western European and North American standards (Babson, Berman and Lessel 1970; Brandt 1978; Hamill et al. 1979; Ozalp et al. 1981; Neyzi et al. 1985).This study, carried out on mother-infant pairs in obstetric hospitals in Istanbul, was designed to investigate the impact of some maternal param­eters on pregnancy outcome as well as to provide information on birth weight, incidence of LBW, of preterm birth and of small for gestational age (SGA) birth