hrp0092p2-296 | Thyroid | ESPE2019

Progressive thyroid dysfunction in infants with Down Syndrome; Trisomy 21 (DS): Effect on Linear Growth

Alaaraj Nada , Soliman Ashraf , Mohammed Shayma , Itani Maya , Khalil Ahmed

Hypothyroidism is the most frequent thyroid abnormality in DS. It can be either congenital, with or acquired at any age after birth. It can be clinical or subclinical disorder. More evidence is required regarding the progressive development of thyroid dysfunction with age.Aim and Methods: We measured thyroid function (Free T4 and TSH) and Anti TPO level in 37 infants with DS at birth, during their first year and after ~ 2.5 years of...

hrp0092p3-153 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Prevalence of Thyroid Dysfunction and Associated Autoimmune Disorders in Young Children with Down Syndrome (DS); A Cohort Study.

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

There is an intriguing association between DS and thyroid abnormalities, which include sub-clinical, overt hypothyroidism, hyperthyroidism, and positive thyroid Antibodies. The prevalence of these abnormalities varies considerably depending on the diagnostic criteria and the selected population which includes sample size and age group.Aim: To measure the prevalence of thyroid dysfunction and associated autoimmunity in children with Down ...

hrp0092p3-161 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The Effect of Thyroxine Treatment on Linear Growth and Weight Gain in Infants and Children with Down Syndrome (DS) and High TSH Versus Children with DS and Normal Thyroid Function: A Controlled Study

Alaaraj Nada , Soliman Ashraf , Itani Maya , Mohammed Shayma , Khalil Ahmed

Background: Subclinical hypothyroidism is the most common in DS. Thyroxin administration to improve growth early in life is still controversial.We measured linear growth (BMI, height SDS (HtSDS) and weight gain/day ) in 3 groups of infants and young children with Down syndrome (trisomy 21) and divided them retrospectively into 3 groups according to their thyroid function. Group 1 (n = 25) with normal FT4 and TSH, group 2 (n = 20)...

hrp0089p2-p119 | Diabetes & Insulin P2 | ESPE2018

Parental Knowledge and Attitudes Toward Diabetes Mellitus Type 1: A Cross Sectional Study

Albanyan Norah , Albanyan Abdulhameed , Adel Ahmad , Zaiton Mohammed

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by absolute insulin deficiency, itÂ’s usually diagnosed in children and adolescents. According to a recent report from the International Diabetes Federation, Saudi Arabia has 14,900 children with T1DM. The incidence is increasing over the last years with prevalence rates of 48 per 100,000 in the eastern region. Parents play an important role in the management of T1DM in children. As a result, ...

hrp0089p2-p183 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Congenital Hyperinsulinism: Management and Outcome in West of Scotland

Eltonbary Khadiga , Robinson Peter , Banerjee Indi , Shaikh Mohammed Guftar

Introduction: Hyperinsulinemic hypoglycaemia (HH) is the most frequent cause of persistent hypoglycaemia in neonates and infants. The most severe forms of HH are inherited and referred to as Congenital Hyperinsulinism (CHI). Hypoglycaemia is the main feature of CHI, and early diagnosis and immediate management are essential to reduce the high risk of neurological damage. Diazoxide is the mainstay of medical treatment, with surgery being an option in appropriate cases.<p cl...

hrp0089p3-p341 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Cytogenetic Spectrum of Ovotesticular Disorder of Sex Development in Egyptian DSD Patients

Mazen Inas , Mekkawi Mona , Dessouki Nabil , Mohammed Amal , Kamel Alaa

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissues in the gonads of the same individual. Patients usually present at birth with ambiguous genitalia, and the majority showed a 46,XX karyotype, with absence of the SRY sequence. In this study we reported on nine patients with OT-DSD, who were referred to the Human Genetics and endocrinology Clinics, division ...

hrp0082p1-d2-78 | Diabetes (1) | ESPE2014

Hormonal and Lipid Profile in Correlation with Anthropometric Measurements Among Offspring of Diabetic Mothers

Elbarbary Nancy , AboElAsrar Mohammed , El-Hadidy Eman , Maghrabi Marwa

Objective: This study was designed primarily to estimate whether there is an association between neonatal anthropometric parameters on one hand and cord blood levels of insulin, leptin, IGF1 and lipid profile on the other hand in offspring of diabetic mothers.Method: A total of 60 full term infants of diabetic mothers and 40 healthy infants of non-diabetic women participated in the study. Detailed anthropometric assessment of the newborn, head circumfere...

hrp0084p3-1006 | Gonads | ESPE2015

Early and Sever Manifestation of McCune-Albright Syndrome with GNAS Mutation in the Liver Tissue

Aljuraibah Fahad , Alohali Wael , Albalawi Mohammed , Almutair Angham

Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushin...

hrp0092p1-161 | Adrenals and HPA Axis (1) | ESPE2019

Perioperative Control of Blood Pressure in a Child with Paraganglioma Using Esmolol

Babiker Amir , Al Hamdan Wejdan , Habeb Abdulhadi , Alfakeeh Khalid , Al Namshan Mohammed , AlHerbi Talal , Al Dubayee Mohammed , Al Juraibah Fahad , Attasi Abdul Aleem

Background: Paragnagliomas and pheochromocytomas are rare neuroendocrine tumors that originate from the paraganglionic cells of the autonomic nervous systems. These tumors may be extra or intra-adrenal in site. The use of antihypertensive medications is usually challenging in these patients. Long acting alpha and beta blockade can be quite useful preoperatively but challenging postoperatively. We present a case of familial paraganglioma that was successfully t...

hrp0095p2-16 | Adrenals and HPA Axis | ESPE2022

Adrenocortical tumor: a rare tumor in children. Report of 2 infants presented with precocious pubarche and rapid growth.

Almutlaq Mohammad

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...