hrp0095p1-320 | Growth and Syndromes | ESPE2022

International vs Qatar national growth data for identifying small and large-for-gestational-age newborns: A population-based study in Qatar

Alyafei Fawzia , Soliman Ashraf , Alqubasi Mai , Ali Hamdy , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

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...

hrp0095p1-331 | Growth and Syndromes | ESPE2022

Prevalence of Obesity from birth to 3 years of age in infants born large for date (LGA): Infants with weight for age (WAZ) catch down vs those without catch down during the first year of life

Fawzia Alyafei , Ashraf Soliman , Saleha Abbsi , Fatima Alkhori , Nada Alaaraj , Shayma Ahmed , Noor Hamed , Hamdy Ali

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...

hrp0095p1-531 | Growth and Syndromes | ESPE2022

Two years of Postnatal linear and head growth of term Infants Born Large for Date (LGA): Those who had infantile Length Z score (LAZ) and/or head circumference Z score (HCZ) catch down vs those without catch down.

Alyafei Fawzia , Soliman Ashraf , Abbsi Saleha , Alkhori Fatima , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed Shayma

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...

hrp0095p2-151 | GH and IGFs | ESPE2022

A novel mutation of LHX3 is associated with combined hypopituitarism and dysmorphic face

Noorian Shahab , Savad Shahram , Saffari Fatemeh , Nikkhah Saeed , Talea Ali , Soltani Hedieh

The pituitary gland is a pea-sized organ located at the base of the brain. It synthesizes, and secretes, many hormones that control growth and development, and the functioning of the other endocrine glands. Panhypopituitarism is a condition of inadequate or absent production of all these hormones. LHX3 (LIM Homeobox 3) is a Protein-Coding gene involved in pituitary development. Mutations in this gene may result in a deficiency of multiple pituitary hormones. Here, we present a...

hrp0095p2-166 | Growth and Syndromes | ESPE2022

Postnatal growth in Preterm infants as a function of their head size (head circumference Z score (HCZ) at birth: Comparison between those who were with a large head (HCZ <-2) to those with normal Head size for gestational age (HCZ > -2)

Alyafei Fawzia , Soliman Ashraf , AlYousef Doaa , Shaat Mona , Itani Maya , Hamed Noor , Ahmed Shayma , Ali Hamdy

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 ...

hrp0092p3-310 | Late Breaking Abstracts | ESPE2019

Case Report: Primary Hyperparathyroidism Presenting as a Brown Tumor of Mandible in an Adolescent Girl - An Unusual Presentation with Challenges and Outcome

Manzoor Jaida , Ahmed Saeed , Talat Nabila , Ali Qureshi Abid , Tahir Aisha

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...

hrp0089p3-p096 | Diabetes &amp; Insulin P3 | ESPE2018

Serum Trace Element Levels in Children Presenting with Diabetic Ketozis and Diabetic Ketoacidosis: A Longitudinal Controlled Study

Doneray Hakan , Gurbuz Kadri , Ozden Ayse , Gul Mehmet Ali , Orbak Zerrin

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

hrp0089p3-p237 | Growth &amp; Syndromes P3 | ESPE2018

Growth Hormon Deficiency in Identical Twins with Gitelman Syndrome due to Compound Heterozygous Mutation (p.R80fs*35/p.K957X) of the SLC12A3 Gene and the Evaluation of the Response to Growth Hormone Replacement Therapy

Yaman Betul , Celegen Kubra , Korkmaz Emine , Lafci Naz Guleray , Balik Zeynep , Demirbilek Huseyin , Duzova Ali

Background: Gitelmann syndrome, a rare autosomal recessive disorder, is characterised with hypokalemic metabolic alkalosis, hypomagnesemia and hypocalciuria. Mutations in the SLC12A3 gene, which encodes for ‘Thiazid sensitive sodium chloride co-transporter channels’ located at the renal distal convoluted tubules account for the underlying molecular mechanism of Gitelmann syndrome. Although, is less frequent than those seen in ‘Bartter Syndrome’, the exact m...

hrp0086p2-p764 | Pituitary and Neuroendocrinology P2 | ESPE2016

Kallmann Syndrome Due to a Homozygous Missense c.217C>T (p.R73C) Mutation Detected in the Exon-2 of the PROK2 Gene

Ozturk Mehmet Nuri , Demirbilek Huseyin , Kotan Leman Damla , Baysal Birsen , Ocal Murat , Topaloglu Ali Kemal

Background: Kallmann syndrome (KS), the prototype of anosmic idiopathic hypogonadotropic hypogonadism (IHH), is charecterized with HH acompanied by anosmia, absence or hypoplasia of olfactory bulbus due to defective morphogenesis. Mutations in 10 genes have been reported to cause KS while can clarify the underlying molecular defect in about 30–50% of IHH/KS cases. Beside, PROK2 gene mutations are extremely rare cause of KS. Herein, we present KS due to a homozygo...

hrp0082p2-d1-537 | Puberty and Neuroendocrinology | ESPE2014

The Evaluation of Possible Role of Endocrine Disrupters in Precocious Puberty

Bulus Derya , Asci Ali , Andiran Nesibe , Kocer-Gumusel Belma , Colakoglu Elif Yagli

Background: Human health might be negatively affected by chemicals named as endocrine disrupters. Researchers showed that phthalates (bis-(2-ethylhexyl) phthalate (DEHP), mono-(2-ethylhexyl) phthalate (MEHP)) and bisphenol A (BPA) have an anti-androgenic and/or estrogenic effects. These endocrine disruptors are accused in occurrence and/or possible increase in unusual early puberty in girls in recent years.Objective and hypotheses: The aim of th...