ESPE Abstracts

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 ...

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...

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...

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...

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 ...

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...

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...

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...

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...

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...