hrp0095p2-190 | Growth and Syndromes | ESPE2022

Results of treatment with recombinant human growth hormone (rhGH) in patients with Turner syndrome. Albanian experience

Gjikopulli Agim , Kollcaku Laurant , Tomori Sonila , Velija Liliana , Hoxha Petrit , Grimci Lindita

Introduction: Turner syndrome (TS), sometimes referred as congenital ovarian dysgenesis syndrome, is a genetic disorder that results when one of the X chromosomes (sex chromosomes) is missing (monosomic) or partially absent (mosaicism). It can cause a variety of medical and developmental problems, including short height. It is one of the most common syndromes that is included in the list of diseases treated with rhGH during the last 22 years in Albania. This s...

hrp0098p2-377 | Late Breaking | ESPE2024

The etiology of Central Precocious Puberty and the Impact of Gonadotropin-Releasing Hormone Agonist Therapy: Albanian experience.

Gjikopulli Agim , Tomori Sonila , Kollcaku Laurant , Kurti Era , Velija Liljana , Cullufi Paskal

Introduction: Central precocious puberty (CPP) occurs when the HPG axis is activated prematurely. As a result, the affected child develops secondary sexual characteristics earlier than is typical for the average pediatric population. The child experiences accelerated bone maturation and premature closure of the epiphyseal growth plates, resulting in reduced adult stature. The mainstay of CPP treatment is a gonadotropin-releasing hormone analog (GnRHa) that sup...

hrp0095p2-197 | Growth and Syndromes | ESPE2022

Characterization of A Patient with "Rasopathies" Type of Noonan Syndrome Due to Mutation of PTPN11 in A Pediatric Endocrine Consultation

Mejia de Beldjenna Liliana , Mejia Valentina

Introduction: Noonan syndrome (NS) is an autosomal dominant disorder that involving multiple organ systems, with an incidence of 1:1,000 to 1:2,500.The clinical features as short stature, dysmorphic facial features, congenital heart defects most commonly pulmonary valve stenosis, typical chest, cryptorchidism. The PTPN11 gene is located on the long arm of chromosome 12q24.1 and encodes for the non-receptor protein tyrosine phosphatase SHP-2 (SHP2), generating ...

hrp0095p2-298 | Thyroid | ESPE2022

Complicated Hypothyroidism in a Child with Trisomy 21

Withana Anuruddhika , De Silva Dimarsha , Liyanage Upeksha

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

hrp0092p2-113 | Fat, Metabolism and Obesity | ESPE2019

Prevalence and Correlation of Non Alcoholic Fatty Liver Disease (NAFLD) with Serum Alanine Aminotransferase (ALT) Levels in Obese Indian Children

Arya Archana , De Hriday , Chugh Vasundhara

Aims: Non-alcoholic fatty liver disease (NAFLD) is the asymptomatic involvement of liver due to fatty infiltration of hepatocytes seen commonly in obese children. Elevated serum aminotransferase level serves as a surrogate marker of NAFLD. The recommended ALT cut-offs for screening for NAFLD in obese boys and girls are 22 and 25U/L respectively. We determined the prevalence of NAFLD amongst obese children in our population based on Liver Ultrasonography(USG), ...

hrp0092p2-257 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Physical Changes, Laboratory Parameters and Bone Mineral Density During Testosterone Treatment in Adolescents with Gender Dysphoria

Stoffers Iris , de Vries Martine , Hannema Sabine

Introduction: Although many adolescents with gender dysphoria (GD) are being treated with GnRH analogues (GnRHa) and gender affirming hormones there is a paucity of data on the effects and side effects of this treatment in this population. We aimed to study short-term outcome of testosterone treatment in male adolescents with GD.Methods: Sixty-two adolescents who had been treated with GnRHa, and subsequently with testost...

hrp0092p3-57 | Diabetes and Insulin | ESPE2019

Prevalence of Celiac Disease (CD) and Autoimmune Thyroid Dysfunction (AITD) in Indian Children with Type 1 Diabetes

Chugh Vasundhara , Arya Archana , De Hriday

Objective: To estimate the prevalence of Celiac disease (CD) and autoimmune thyroid dysfunction (AITD) in children with Type 1 Diabetes.Study Design: The analysis included 177 (83 girls, 94 boys) children and adolescents with a diagnosis of Type 1 Diabetes who were followed up for a duration of more than 2years at Sir Ganga Ram Hospital, a tertiary care hospital in Northern India.Results</s...

hrp0089p1-p192 | Multisystem Endocrine Disorders P1 | ESPE2018

Final Adult Height, Insulin-like Growth Factor 1 (IGF-I) Concentration in Adolescents and Young Adults with β-Thalassemia Major (BTM) with and Without Growth Hormone Deficiency

Soliman Ashraf , Yassin Mohamed , Sanctis Vincenzo De

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

hrp0089p2-p286 | Multisystem Endocrine Disorders P2 | ESPE2018

Final Adult Height, Insulin-Like Growth Factor 1 (IGF-I) Concentration and Endocrine Complications in Adolescents and Young Adults with β-Thalassemia Major (BTM) Who Received Oral Iron Chelation (OIC) in Comparison with Those Who Did Not Use OIC

Soliman Ashraf , Yassin Mohamed , Sanctis Vincenzo De

Background: Relatively little is known about endocrine function, bone mineral health, and growth during oral iron chelation therapy (OIC) in β-thalassemia major patients (BMT) on treatment with deferasirox.Aims of the study: To measure the final adult standing height (FA-Ht) and the frequency of endocrine complications in relation to their liver iron content (LIC) and insulin-like growth factor 1 (IGF-I) concentration. Patients were grouped into two...

hrp0086p2-p77 | Adrenal P2 | ESPE2016

Management Dilemmas in a Genetically Female Child with Congenital Adrenal Hyperplasia Raised as a Male

Seneviratne Sumudu , Samarasinghe Malik , de Silva KSH

Background: Conventionally, 46 XX infants with congenital adrenal hyperplasia (CAH) were reared as females, even if considerably virilised at birth. However, lately there has been some debate on this stance, and male gender of rearing is also being considered.Objective and hypotheses: We report on a 9 year old genetically female child (N) with salt wasting CAH reared as a male, with precocious female puberty, currently suppressed with GnRH analogs, and d...