hrp0082ha2 | Pubertal onset in girls is strongly influenced by genetic variation in promoters affecting FSH action | ESPE2014

Pubertal Onset in Girls is Strongly Influenced by Genetic Variation in Promoters Affecting FSH Action

Hagen Casper P , Sorensen Kaspar , Aksglaede Lise , Mouritsen Annette , Mieritz Mikkel G , Tinggaard Jeanette , Wohlfart-Veje Christine , Petersen Jorgen H , Main Katharina M , Meyts Ewa Rajpert-De , Almstrup Kristian , Juul Anders

Background: FSH stimulates ovarian follicle maturation and estradiol synthesis which is responsible for breast development. Age at pubertal onset varies substantially among healthy girls. Although more than half of the variation is heritable, only a small part has been attributed to specific genetic polymorphisms identified so far.Objective and Hypotheses: We assessed the effect on pubertal onset of three genetic polymorphisms affecting FSH action.<p...

hrp0082p3-d2-675 | Bone (1) | ESPE2014

FGFR3 Gene: a Very Rare Mutation

Hawkins Magdalena , Alcalde Ana , Yebra Julia , Quintero Victor , Trujillo-Tiebas Maria Jose , Canete Alfonso

Background: Achondroplasia and hypochondroplasia are more frequent types of skeletal dysplasia. De novo mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are the principal cause. More than 95% of the cases of achondroplasia result from a mutation G1138A (Gly380Arg). In hypochondroplasia we usually (50–70%) found the change C1620A y C1620G, N540K (Asn540Lys).Objective and hypotheses: We describe an skeletal dysplasia...

hrp0082p3-d2-828 | Growth (1) | ESPE2014

Growth Response After 1 Year of GH Treatment in Children Born Small for Gestational (SGA) Without GH Deficiency: our Experience

Garbetta Gisella , Pozzobon Gabriella , Osimani Sara , Damia Chiara , Ferrarello Maria Piera , Voto Andrea , Pruccoli Giulia , Partenope Cristina , Weber Giovanna , Chiumello Giuseppe

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

hrp0084p2-386 | Fat | ESPE2015

The Sequence of Prenatal Growth Restraint and Postnatal Catch-Up Growth Leads to a Thicker Intima Media and More Pre-Peritoneal and Hepatic Fat by Age 3-6 Years

Sebastiani Giorgia , Diaz Marta , Bassols Judit , Lopez-Bermejo Abel , De Zegher Francis , Ibanez Lourdes

Background: Infants born small-for-gestational age (SGA) who develop postnatal weight catch-up are at risk for insulin resistance, central adiposity and cardiovascular disease in later life, even in the absence of overweight.Objective and hypotheses: In young (age 3–6 years) non-obese SGA children, we assessed arterial health by intima-media thickness (IMT) and abdominal fat distribution (subcutaneous, visceral, pre-peritoneal and hepatic components...

hrp0084p2-497 | Perinatal | ESPE2015

Genetic Variation in the FSH Signalling Pathway Affects Female Reproductive Hormones During Infancy

Henriksen Louise S , Hagen Casper P , Assens Maria , Almstrup Kristian , Main Katharina M

Background: Studies have shown that genetic variations in the FSH pathway (SNPs: FSHB −211G>T, FSHR −29G>A, and FSHR 2039A>G) affect peripubertal levels of serum FSH and age at pubertal onset in girls.Objective and hypotheses: Genetic variations in the FSH pathway reflect circulating levels of female reproductive hormones during the postnatal gonadotropin surge.Method: Blood samples were taken in girls of th...

hrp0084p3-1034 | Growth | ESPE2015

Birth Characteristics Influence the Male to Female Diagnostic Prevalence of Idiopathic GH Deficiency

Camacho-Hubner Cecilia , Lindberg Anders , Arnhold Ivo J P , Ranke Michael B

Background: A greater number of male (M) vs female (F) patients are diagnosed with GH deficiency (GHD). M have larger birth weight (BW), length and head circumference (HC) compared to F; these characteristics could contribute to subtle cephalo-pelvic disproportion and mild head trauma possibly contributing to idiopathic GHD (IGHD) and multiple pituitary hormone deficiencies (MPHD).Objective: To determine birth characteristics including mode of delivery a...

hrp0095p1-494 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal growth pattern in (n=51) infants of non-diabetic mothers (INDM) who were born preterm or near term and had significant neonatal hypoglycemia

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Prematurity is a risk factor for significant hypoglycemia even in infants born to non-diabetic mothers (INDM) which could lead to postnatal growth abnormalities. This study evaluated the growth pattern from birth until the age of 2 years of 51 INDM who were born preterm or near term and admitted with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4,6,12,18 and 2 years were measured in 51 INDM who admitted with neonatal hypoglycemia (Plasma value les...

hrp0095p1-133 | Growth and Syndromes | ESPE2022

Postnatal growth of infants born < 2.5 kg: small for gestational age (SGA) vs appropriate for gestational age (AGA)

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

We studied anthropometric measures (z scores) from birth to 2 years in 115 infants who were born with birth weight <2.5 kg but > 1.5 kg. They were divided into two groups based on Fenton's preterm growth standards at birth. Group 1 (AGA) with weight z score (WAZ) > -2 (n = 100), and group 2 (SGA) with WAZ < -2 (n = 15). Postnatal growth data were evaluated based on the WHO growth standard without correction for prematurity.<p class="abste...

hrp0095p1-527 | Growth and Syndromes | ESPE2022

The Cumulative incidence of SGA, AGA and LGA, Premature, Postmature, and Term birth in infants born between the 33rd weak and the 44th weeks of Gestation in Qatar

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

Introduction: Prematurity, post-maturity, and significant deviations in birth weight are associated with significant morbidities and mortalities.Aim: The aim of this study was to identify the cumulative incidence (CI) of premature, postmature, and term birth rates additionally to find out the prevalence of SGA, AGA, and LGA using INTERGROWTH-21 st fetal growth standards.Methods: Th...

hrp0095p2-130 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Postnatal Growth in Infants of Diabetic Mothers (IDM) (n = 79) Who Were Born at or Near Term and Had Severe Neonatal Hypoglycemia Without Other Comorbidities.

Alaaraj Nada , Soliman Ashraf , Ahmed Shayma , Hamed Noor , Alyafei Fawzia , Ali Hamdy , Itani Maya , Al-Naimi Fatima , Shaat Mona , Al-Yousef Doaa

Abnormal postnatal patterns of linear growth and weight gain have been reported in infants born to mothers with gestational diabetes (IDM). We evaluated the growth pattern from birth to the age of 2 years of 79 IDMs who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18, and 2 years were measured in 79 IDM who presented with significant neonatal hypoglycemia (Plasma value less than 20-25 mg/dL (1.1-1.4 mmol/L)) t...