ESPE Abstracts

Introduction: The 22q11 deletion is one of the most commonly recognized deletion syndromes in humans (~ 1/4000 live births). Most of the reported defect generally involves a deletion at breakpoints LCR22A and LCR22D causing DiGeorge or velo-cardio-facial syndrome. In deletion syndromes, the phenotype ranges from unspecified dysmorphic features to severe cognitive/behavioral deficits, but normal features can occur depending on the size and amount of gene dosage...

Background: Data about placental weight (PW) in relation to birth weight (BW) and gestational age (GA) are lacking in Arab countries.Objectives: To report the specific centile charts of PW/BW ratio in a large cohort of mother/baby pairs (n= 80277) born between 37th and 42nd weeks of gestation in relation to neonatal growth characteristics and gender.Methods: Retrospective ...

Background: Following a phase of feeding difficulties and underweight in early life, children with Prader-Willi syndrome (PWS) develop hyperphagia and a tendency towards severe obesity. Growth hormone therapy (GH) has been approved in PWS to compensate their growth failure but may exert also additional effects on muscle component and body composition as well.Objectives: We aimed to test if an early initiation of GH thera...

Background: To update the ongoing debate about the use of universal strict vs (local) national intrauterine growth charts, we compared the prevalence of small and large-for-gestational-age (SGA/LGA) infants according to international charts and national growth data.Methods: We classified singleton births from 33 to 42 weeks of gestation in 2016 and 2019 from Qatar (n = 92431), SGA (birthweight <10th percentil...

Introduction: Infants whose weight is > the 90th percentile for gestational age are classified as large for gestational age (LGA). Catch-up and catch-down growth can be defined as an increase or decrease in WAZ by > 0.67 SD respectively during the infantile period. It was suggested that in LGA rapid catch-up and/or no catch-down during infancy may be associated with the development of overweight (OW) and obesity (OB) during childhood.<p class="abstex...

Introduction: Large for date (LGA) infants may have a higher tendency to become obese and tall. Catch-up and/or catch-down in linear growth, defined as an increase or decrease in length for age Z score (LAZ) by > 0.67 SD during the infantile period, may affect this tendency. Additionally, head circumference is well correlated with brain growth.Aim: We evaluated the prevalence of tall stature (LAZ > 1 and> 2) and...

Suboptimal head growth in utero and in early neonatal life may affect linear growth and weight gain during infancy. We studied linear growth and weight gain of 56 preterms (GA = 33.5 +/- 2.2 weeks) with birth weight >1.5 < 2.5 kg) for two years. They were classified at birth into two groups (group 1 with HCZ <-1) (relatively small head for GA) (35 +/- 2 weeks) and group 2 with HCZ > -1 (GA = 33 +/- 1.7 weeks)Results: Preterm ...

Background: Down syndrome (DS) is associated with thyroid dysfunction including both congenital and acquired hypothyroidism (HT) However, data about thyroid function in infants < 1 year with DS is scarce.The aim of this study was to investigate the prevalence of different thyroid dysfunctions in a cohort of infants with DS (n = 47) (22 M, 25 F) and follow up their linear growth and weight gain for an average of 4 years.<p cla...

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...