ESPE Abstracts

Objective: This study aims to evaluate the effectiveness and efficiency of weight-based threshold levels for 17-hydroxyprogesterone (17-OHP) in screening newborns for 21 hydroxylases deficiency-congenital adrenal hyperplasia (CAH)Design: In April 2021 CAH screening was incorporated into the ongoing newborn screening program at aga khan university Hospital Karachi Pakistan,17OHp was assayed through Spectro fluorometry of ...

Introduction: Patients with thalassemia have a high prevalence of malnutrition and low body mass index (BMI), and nutritional intervention studies are scarce.Aim: We performed an electronic search in PubMed, Google Scholar, and Web of Sciences to review nutritional intervention studies and their possible beneficial effect on children and adults with BTM.Results: 17 controlled and/o...

Background: In children, untreated Congenital Hypothyroidism (CH), can result in permanent neurological defects and growth abnormalities. This can be prevented by early detection and treatment of CH. Newborn screening for CH is considered one of the best tools for the prevention of these long-term complications. In our setting, we use heel-stick dried blood sample TSH (DBS-TSH) as a screening tool to detect CH. The DBS-TSH cut-off level is critical to ensuring...

Introduction: Placental hormones can control the transfer of maternal nutrients to the fetus and modulate fetal and neonatal growth. Data about the interaction between maternal, placental and fetal IGF1/IGFBP in relation to newborn size is not clear,Aim: To review research paper published in Pubmed, Google scholar, Research gate, and Scopus in the past 20 years on the relation between maternal, placental and fetal/infant...

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...

Introduction: Childhood cancer survivors (CCSs) has increased risk of endocrine complications, of which, abnormal growth and hypothyroidism are the commonest. The risk of developing endocrinopathy will vary according to different host factors including type of tumour and factors related to treatment modalities including chemotherapy, radiotherapy, surgery and bone marrow transplantation. we aim to assess the prevalence and associated risk factors of early deve...

Background and objectives: The diagnosis of CAH is a matter of urgent attention as a missed diagnosis can add to mortality due to adrenal insufficiency and inadequate sex of rearing which is psychologically traumatic both for the parents and the child. It is also a matter of grave concern because screening facilities are non-existent in Pakistan along with increase prevalence of intra family marriages thus adding to the increase incidence of this condition. La...

Background: Functioning gonadotroph adenomas (FGAs) are very rare gonadotropin-secreting pituitary adenomas. Clinically, FGAs present only with mass effects. Nevertheless, central precocious puberty (CPP) has also been reported. Published data have demonstrated controversial opinions on the use of GnRH agonists in these patients, considering the risk of increase in tumor size and stimulating gonadotropin secretion. We herein report 3 cases diagnosed with CPP d...

Introduction: The molecular aetiology of familial glucocorticoid deficiency (FGD) is very heterogeneous. A recent report of a genetic variant in TXNRD2, the gene encoding thioredoxin reductase Type 2, in a South Asian kindred with FGD suggests that the maintenance of redox balance may be critical for adrenocortical function. We present the second report of an individual from another south Asian family harbouring a different pathological variant in <em...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...