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...

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 ...

hrp0098p2-6 | Adrenals and HPA Axis | ESPE2024

Diagnosis of Cushing's Disease with Desmopressin-Induced Bilateral Inferior Petrosal Sinus Sampling: A Case Report

Bayrak Demirel Ozge , Derya Kardelen Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Bilateral inferior petrosal sinus sampling (IPSS) is the gold standard for determining the source of hypercortisolism in ACTH-dependent Cushing's syndrome. Traditionally, IPSS is performed with CRH stimulation. Since CRH has been unavailable recently, intravenous desmopressin administration may be preferred during IPSS.Case Report: A 13-year-old boy presented with a weight gain of 10 kg and a decreased h...

hrp0098p2-163 | Growth and Syndromes | ESPE2024

Noonan Syndrome: About 21 cases

Iabbassen Malek , Bendjebbour Fayçal , Berkoune Fatma , Ouki Halla , Taazibt Akli , Chanegriha Mounira , Bensalah Meryem

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RAS–MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...

hrp0098p3-14 | Adrenals and HPA Axis | ESPE2024

Combined Therapy with GnRH Analogue, Aromatase Inhibitor, and Growth Hormone on Adult Height in Non-Classical Congenital Adrenal Hyperplasia: A Case Report

Sharifova Mirzayev Sabina , Derya Kardenel Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Patients with non-classical congenital adrenal hyperplasia (NCCAH) generally show a normal growth pattern and reach to their target height. However, short final height can occasionally occur. Here, we present a patient with NCCAH who reach his target height with additional therapy.Case Report: A 10.5-year-old boy was brought in due to pubic hair growth that had started before 6 months. He was born at 30 weeks...

hrp0098p2-109 | Fat, Metabolism and Obesity | ESPE2024

Single-center experience in using a once weekly Semaglutide injection in adolescents with obesity +/- Type 2 diabetes

Dauleh Hajar , Amin Rasha , Pasha Maheen , Gad Hoda , Elshareif Tamara , Khalifa Amel , Petrovski Goran , Ahmed Elwaseila , Mohamadsalih Ghassan , Chirayath Shiga , Albureshad Khalid , Ibrahim Marwa , Campbell Judith , Hamdan Manar , Almajaly Douha , Umer Fareeda , Albahri Aya , Isamil Fatima , Saeed Sara , almasarweh Hadeel , cuatrona Erlinda , Biglangawa Roshirl , Inso Gina , Aler Joanna , A.Eyalawwad Ayah , Malik Rayaz , Hussain Khalid

Background: Childhood obesity presents a significant global health concern, leading to long-term morbidity and mortality. While lifestyle interventions remain fundamental, pharmacological approaches, particularly using glucagon-like peptide-1 (GLP-1) receptor agonists, show promise in certain patient populations. However, studies exploring this avenue, particularly in the Middle East and North African region, are limited. This study aims to share our experienc...

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...