hrp0082p2-d2-581 | Sex Development (1) | ESPE2014

Rare Disease Registries: Perception of Parents and Young People

Jayasena Arundathi , Muscarella Miriam , Ahmed Faisal

Background: Rare-disease registries are considered to be the key for improving patient care through research and audit. In the field of paediatric endocrinology, the views of parents and affected young people about such registries are unclear.Objective: To conduct a survey to understand the views of parents and young people with rare conditions.Method: A structured questionnaire was completed by two groups of clinic attendees, thos...

hrp0084p1-76 | Fat | ESPE2015

Endothelial Progenitor Cells in Obese Non-Diabetic Children and Adolescents: Relations to Some Metabolic Parameters, Echocardiographic Parameters and Tissue Doppler Imaging

Ahmed Alaa , Youssef Omneya , Thabet Botheina

Background: Endothelial progenitor cells (EPCs) are involved in the regeneration of the endothelial lining following blood vessel injury. The reduction in the number of EPCs was postulated to be associated with the initiation and progression of cardiovascular disease.Objective and hypotheses: This study aimed at exploration of the number of EPCs in obese non-diabetic children and adolescents and their relation to the fasting lipid levels, fasting glucose...

hrp0084p3-807 | DSD | ESPE2015

An Interesting Case of a Phenotypic Female with a 46,XY Karyotype, Uterus and Menstruation

Yau Mabel , Khattab Ahmed , New Maria

Background: This is a case of an 18 year old phenotypic female of Bolivian origin with a 46,XY karyotype, uterus and menstruation with estrogen replacement. She was initially diagnosed with androgen insensitivity based on Leuprolide and HCG stimulation testing results. With menstruation, other etiologies are being considered.Case presentation: She presented with clitoromegaly and moderate posterior labial fusion (Prader III). Laboratory evaluation at 6&#...

hrp0094p2-328 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Excessive body hair, short stature and advanced bone age in a girl: Hypertrichosis versus adrenarche?

Soliman Ashraf , Elawwa Ahmed , Alaaraj Nada ,

A 6-year-old girl presented with hypertrichosis all over the body. She was born at term with a birth weight of 2 kg. She had a paralytic squint with excess body hair since birth. She had delayed developmental milestones. She had HTSDS = -1.3, BMI SDS = 0.66. Her Mid-parental HtSDS = 0. She had no other signs of puberty. (breast Tanner 1). Investigations revealed DHEAS = 3.3 Umol/L, Estradiol = 43 pmol/l, FSH = 1.5 IU/L. LH = 0.5 IU/L, Testo: 0.63 nmol/l, IGF1 = 200 ug/l, FT4 =...

hrp0094p2-335 | Multisystem endocrine disorders | ESPE2021

Obesity, vaginal bleeding and ovarian mass in a 5-year-old female girl with autoimmune hypothyroidism

Elsayed Shaymaa , Soliman Ashraf , Elawwa Ahmed ,

Case presentation: We report a five -year-old girl who presented for evaluation of obesity, abdominal distension, vaginal bleeding for two days, and abdominal distention. There was no history of local trauma or vaginal discharge associated with the vaginal bleeding and no suspicion of abuse. There was no purpura or bleeding from other sites. Her HtSDS = -1.3 SD and BMI SDS = + 1.5 SD. A large abdominal mass was palpable. There was no hepatomegaly, splenomegaly or lymphadenopat...

hrp0098p3-47 | Diabetes and Insulin | ESPE2024

Children with Type 1 Diabetes and their families Satisfaction with Healthcare Services

Atwa Hoda , Omran Ahmed , Mustafa Omnia

Patient satisfaction is of increasing importance and is widely recognized as an indicator of quality of medical care. The aim was to assess children with type 1 diabetes and their families Satisfaction with Healthcare Services.Methods: The study was conducted at Pediatric outpatient clinic, Suez Canal University Hospital, Ismailia Egypt. Eighty children diagnosed with type 1 diabetes for at least 1 year. They were interviewed to obtain t...

hrp0098p3-237 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Case report: A unusual association: Lipoid CAH and Arnold Chiari I malformation!

Diab Dina , Elawwa Ahmed , Elsayed Shaymaa

A 6 year and 11 month -old girl of a Consanguineous parent. Her family history : has 2 sibling deaths in the neonatal period. her perinatal history :C/S, full term, NICU admission on the 5th day of birth due to vomiting and had generalized hyperpigmentation (external genitalia and skin with No atypical genitalia, her labs revealed hypoglycemia, hyponatremia and hyperkalemia, and her hormonal profile revealed sky high ACTH 2745 pg/ml (N.7.2-63.3 pg/ml), low cortisol 2 ug/dl (N....

hrp0092p3-94 | Diabetes and Insulin | ESPE2019

Role of Renal Scintigraphy as an Early Predictor of Chronic Renal Damage in Children and Adolescents with Type1 Diabetes

Wahab Amina Abdel , Mohamed Yasmine , El Sharkawy Sonia , Hassaneen Ehab , Ahmed Ahmed

Background: Chronic kidney disease (CKD) was defined by structural or functional renal abnormalities, or an estimated glomerular filtration rate (GFR) of less than 60 mL/min per 1.73 m2. A child with CKD may develop many complications such as: anemia, poor growth and nutrition, bone and mineral disorders, cardiovascular complications, and complications of hemodialysis, and peritoneal dialysis.Aim: Assessment of severity ...

hrp0089fc3.3 | Diabetes and Insulin 1 | ESPE2018

Pediatric Patients with Type 1 Diabetes and Abnormal Nerve Conduction Studies Demonstrate Higher Neopterin Levels: Potential Role as a Biochemical Marker for Peripheral Neuropathy

Elbarbary Nancy , Ismail Eman Abdel Rahman , El- Hilaly Rana Ahmed , Ahmed Fatma Salama

Background: Electrophysiological techniques allowed identification of sub-clinical pathological changes and early diagnosis of diabetic peripheral neuropathy (PN). Neopterin is a marker of inflammation and cellular immune response that is elevated in conditions of T-cell or macrophages activation. Diabetic peripheral neuropathy (PN) is associated with inflammatory/immune processes and therefore, we hypothesized that neopterin could be used as a marker of neuropathy in type 1 d...

hrp0094p2-131 | Diabetes and insulin | ESPE2021

Comparison between hybrid diabetes (HD) and type 2 diabetes (T2DM) in children; Patient`s characteristics at diagnosis: a retrospective observational study.

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , Elawwa Ahmed , Alaaraj Nada , Ahmed Shayma ,

The “Hybrid Diabetes (HD)” is a new term that emerged in the last few years to describe diabetes with combined features of type 1 and type 2 diabetes. The etiology behind hybrid diabetes is not well understood, and clinical characteristics for these unique patients were not described before. Differentiating HD from other forms of diabetes will lead to a better understanding of the disease process and course, as well as knowing the most appropriate management plan to ...