ESPE Abstracts

Background: Among 46,XY individuals, androgen insensitivity syndrome (AIS) due to deleterious variants of the androgen receptor (AR) gene is one cause for a difference of sexual development (DSD). Typically, individuals with complete androgen insensitivity syndrome (CAIS) present with female external genitalia and palpable labial masses. Whereas most patients carry germline variants inherited in an X-linked manner, approximately 30% of patients manifest de novo variants. We de...

Background: Persistent Müllerian duct syndrome (PMDS) is a Disorder of Sex Development (DSD) caused by mutations in genes encoding anti-Müllerian hormone (AMH) or its type II receptor (AMHR2) with autosomal recessive transmission. Objective: To report a case of transverse testicular ectopia (TTE), associated with PMDS, initially presented as an obstructed inguinal hernia.Case presentation: An 18- days- old male infant, wi...

Background: The most common conditions requiring surgery or radiation therapy of the sella and suprasellar area in childhood are craniopharygiomas and pituitary adenomas. Therapeutic procedures involving pituitary gland often lead to multiple hormonal deficiencies, and experienced multidisciplinary team following guidelines and applying systematic approach could improve outcomes.Aim: To evaluate hormonal replacement ther...

Background: Diabetes mellitus is the second most common chronic disease of childhood. It requires appropriate management and follow up to reduce the complications. Type 1 diabetes mellitus (T1DM) is the most common type of diabetes that affects children. Most of the developed countries launched registries. In Iraq, there is no access to statistics or national report about the provided service. Rather, there is no standardization of the practice.<p class="a...

Introduction: Childhood obesity is continuing to increase worldwide resulting in a rise in the number of individuals with complications secondary to obesity. Non-alcoholic fatty liver disease (NAFLD) is seen in both adult and paediatric populations and if not treated appropriately is potentially life-threatening, as it may progress to advanced fibrosis, cirrhosis or hepatocellular carcinoma. NAFLD has now become the most common indication for liver transplant ...

Introduction: Paediatric morbid obesity (BMI >99.6th centile for age) causes severe obstructive sleep apnoea (OSA) requiring respiratory support. Patient prognosis is poor and requires urgent intervention. Four patients with morbid obesity and severe OSA were admitted for multidisciplinary team (MDT) intensive weight management and continuous positive airway pressure (CPAP) initiation.Methods: The patients...

Background: Since the 1980s, growth hormone (GH) treatment has been administered to children as daily subcutaneous (SC) injections. GH-treatment is extremely costly, and requires a high level of training and education, otherwise there is a risk of a poor response to treatment by the patient. This can lead to a waste of time and money for the family. The key to good adherence and successful treatment is patient understanding of the growth/metabolic problem and ...

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

Introduction: The COVID-19 pandemic adversely impacted general access to healthcare. An association between SARS-CoV-2 infection and new-onset type 1 Diabetes (T1D), a more severe disease at diagnosis and a worsening diabetes control have been described.Aim: To evaluate COVID-19 pandemic’s impact in incidence and presentation of T1D on paediatric patients.Material and Methods:</strong...