hrp0095p1-92 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Reference National Standards for Placental Weight in Infants born between the 37th and 43rd weeks of Gestation in Qatar. (A Population-Based Retrospective Data Analysis (n = 80722).

Alyafei Fawzia , Al-qubasi Mai , Soliman Ashraf , Ali Hamdy , Olukade Tawa , Alturk Mohamad , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Because of the associations and links between abnormal placental weight and both fetal and maternal disorders, it is important to have the national normal standard for placental weight as a normality reference.Aims: To find out the national placental weight standards for babies born between 37th and 43rd weeks of gestation in all groups of males and females babies born AGA, SGA, and LGA.<p class="abstex...

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...

hrp0095p1-530 | Growth and Syndromes | ESPE2022

Proportions of abnormal growth parameters in extremely low birth weight infants (ELBW) during the first 3 years of life: weight Z score(WAZ), length Z score (LAZ), weight for length Z score (WLZ), and head circumference Z score (HCZ)

Alyafei Fawzia , Soliman Ashraf , Alkhori Fatima , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed shayma , Alhemaidi Noora , Abbasi Saleha

Introduction: This study evaluated the postnatal growth of infants born with extremely low birth weight (ELBW) < 1 kg for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (9-2016: 9-2018). Their growth data were compared to standard growth for normal age and sex using WHO growth standa...

hrp0095p2-128 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Placental Weight and their relation to Infant Birth weight and Gender, Gestational Age, and Maternal Age: (A Population-Based Retrospective Data Analysis (n = 80722)

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

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

hrp0095p2-164 | Growth and Syndromes | ESPE2022

Growth of extremely low birth weight infants (ELBW) at a tertiary hospital: catch-up growth continues during the 3rd year of life.

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

Introduction: An extremely low birth weight (ELBW) infant is defined as one with a birth weight of less than 1000 g. This study evaluated the postnatal growth of infants born with ELBW for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (between 9-2016 and 9-2018). Their anthropometric d...

hrp0089p1-p186 | Growth &amp; Syndromes P1 | ESPE2018

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients

Kawashima Sayaka , Nakamura Akie , Inoue Takanobu , Matsubara Keiko , Horikawa Reiko , Wakui Keiko , Takano Kyoko , Fukushima Yoshimitsu , Tatematsu Toshi , Mizuno Seiji , Tsubaki Junko , Kure Shigeo , Matsubara Yoichi , Ogata Tsutomu , Nagasaki Keisuke , Fukami Maki , Kagami Masayo

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...

hrp0092fc12.5 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Integrated Analysis of Baseline Blood Transcriptome and Genome Identifies Clusters of Turner Syndrome Patients with Different Responses to Recombinant Human Growth Hormone

Sellers Robert , Amin Amina , Patel Kajal , Garner Terence , Whatmore Andrew , Koledova Ekaterina , Murray Philip , Chatelain Pierre , Clayton Peter , Stevens Adam

Responsiveness to recombinant human growth hormone (rhGH) treatment in Turner syndrome (TS) is highly variable. Previous research has characterised genetic variants associated with rhGH response but these only have a minor impact. The relationship of these genetic variants to the blood transcriptome is unknown. The aim of this analysis was to relate unsupervised baseline blood transcriptome and genetic data from TS patients to their phenotype, karyotype and responsiveness to r...

hrp0084p1-100 | Perinatal | ESPE2015

Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease

Katugampola Harshini , Improda Nicola , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

hrp0084p2-250 | Diabetes | ESPE2015

Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre

Improda Nicola , Katugampola Harshini , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...