hrp0094p2-416 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Ovarian Juvenile Granulosa Cell Tumor in 9-Month-Old female Infant presented with Isosexual Pseudo Puberty: Case Report

Ahmed Shayma , Soliman Ashraf , Alaaraj Nada , Alyafie Fawzia , Maadheed Maryam AL , Clelland Colin

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 ...

hrp0094p2-243 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Postnatal linear growth and weight gain in 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 , Itani Maya , Al-Naimi Fatima ,

Preterm babies born to non-diabetic mothers (INDM) who experience significant hypoglycemia may have postnatal growth abnormalities. This study evaluated the growth pattern from birth to the age of 2 years of 40 INDM 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 40 INDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/dl (1.1-1.4 mmol/l) th...

hrp0094p2-244 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) | ESPE2021

Genetic Testing Access and Results for Patients with Congenital Hyperinsulinism as Conducted through the CHI and University of Exeter Partnership

Pasquini Tai L.S. , Houghton Jayne A.L. , Mesfin Mahlet , Flanagan Sarah E. , Raskin Julie ,

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...

hrp0097fc3.4 | Fat, metabolism and obesity 1 | ESPE2023

A Novel Mutation in DYRK1B Associated With Abdominal Obesity Metabolic Syndrome 3 (AOMS3)

Faisal Mohamadsalih Ghassan , Al-Barazenji Tara , Omar Mohammed Idris , Nedham A J Alshafai Mashael , Hussain Khalid

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

hrp0097t4 | Section | ESPE2023

Functional characterization of novel MC4R gene variant in two unrelated patients with morbid obesity

Mohammed Idris , Selvaraj Senthil , Ahmed Wesam , Albarazenji Tara , Al-Shafai Mashae , Hussain Khalid

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

hrp0097p1-196 | Thyroid | ESPE2023

Clinical Pattern and management attitudes of Paediatric Graves' Disease in Saudi Arabia, A 10-Year Experience

Mulla Jaazeel , Al Shaikh Adnan , Aldubayee Mohammad , AlNoaim Khalid , Hakim S , Babiker Amir

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

hrp0097p2-175 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Kenny Caffey Syndrome; a Rare Diagnosis in Saudi Arabia.

Alzahrani Hajer , Babikr Amir , Alghamdi Omair , Almutairi Fuad , Al Alwan Ibrahim

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

hrp0097p2-260 | Late Breaking | ESPE2023

Pseudohypoaldosteronism: a challenging diagnosis with management pitfalls

Babiker Amir , Aldabas Haya , Alanazi Shahad , Alahmadi Bashayer , Al Atawi Mohsen , Aljuraibah Fahad , Almutair Angham

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

hrp0082p3-d1-874 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical Characteristics and Phenotype–Genotype Analysis in Turkish Patients with Congenital Hyperinsulinism; Predominance of Recessive KATP Channel Mutations

Demirbilek Huseyin , Arya Ved Bhushan , Ozbek Mehmet Nuri , Akinci Aysehan , Dogan Murat , Demirel Fatma , Houghton Jayne , Kaba Sultan , Guzel Fatma , Baran Riza Taner , Unal Sema , Tekkes Selahattin , Flanagan Sarah E , Ellard Sian , Husssain Khalid

Background: Congenital hyperinsulinism (CHI) is the most common cause of hyperinsulinaemic hypoglycaemia in the neonatal, infancy, and childhood periods. Its clinical presentation, histology and underlying molecular biology are extremely heterogeneous.Objective and hypotheses: To describe the clinical characteristics, analyse the genotype–phenotype correlations and describe the treatment outcome of Turkish CHI patients.Method:...

hrp0092p2-193 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Linear Growth of Children with Celiac Disease (CD) after the First Two Years on a Gluten-Free Diet (GFD); A Controlled Study

TAWFIK SOLIMAN ASHRAF , Laham Muhannad , Jour Celine , Itani Maya , Shaat Mona , Souikey Fatima , Al-Naimi Noora , Al-Safi Athba , Qudaisat Anwar , Alarabi Zohair , Hassan Ayman , Quraan Eyad , Elsiddig sohair

We evaluated the effect of GFD on the growth of children with the classical form of CD on long-term GFD (> 2 years).Methods: We studied growth parameters (weight gain/day, BMI and BMISDS, HtSDS) and lab data for 30 prepubertal children aged 8.5 years +/−3 years with CD, who were on GFD since the age of 3.4 years +/−2.6 years (> 2 years on GFD) for duration of 1 year. The anthropometric data of 30 randomly sele...