hrp0094p1-109 | Adrenal B | ESPE2021

Plasma steroid panel with liquid chromotography-mass spectrometry (LC/MS-MS) method: utilization in differential diagnosis of hyperandrogenism

Ucar Mert , Ata Aysun , Barutcuoğlu Burcu , Ak Guneş , Habif Sara , Parıldar Zuhal , Gokşen Damla , Darcan Şukran , Ege Samim Ozen ,

Introduction: The etiology of hyperandrogenism is diverse and diagnosis is based on history, clinical findings, reliable measurement of steroid hormones and genetic analyzes. In the electrochemiluminescence immunoassay (ECLIA) method, the presence of various endogenous compounds and the use of certain pharmaceutical agents may cause interference in results, on the other hand liquid chromatography-mass spectrometry (LC-MS/MS) method allows measurement of 17 adr...

hrp0092rfc7.1 | Diabetes and Insulin Session 2 | ESPE2019

Accuracy of Glucose Sensor Estimate of HbA1c in Children with Type 1 Diabetes

Ehtisham Sarah , Adhami Sara

Introduction: Glucose sensor usage is increasing in the paediatric type 1 diabetes population. The sensor downloads can provide valuable information about glycaemic levels over a 90-day period and generate an estimated HbA1c based on the average glucose level.Aim: We aimed to test whether the sensor-estimated HbA1c over 90 days was an accurate prediction of the measured HbA1c and whether its accuracy correlated with perc...

hrp0086p2-p316 | Diabetes P2 | ESPE2016

Cystic Fibrosis Related Diabetes

Banjar Hanaa , AlBanyan Sara

Background: Cystic fibrosis-related diabetes (CFRD) is the most common co-morbidity in association with cystic fibrosis. Cystic fibrosis related diabetes is predominantly an insulin deficiency state it shares features of both type 1 and type 2 diabetes, yet there are important differences, which necessitate a unique approach to diagnosis and management. Development of cystic fibrosis related diabetes is associated with a worse lung function, poorer nutritional status, and more...

hrp0086p2-p440 | Gonads & DSD P2 | ESPE2016

An Uncommon Case of Adolescent with POF

Queirolo Sara , Balice Piero

Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was...

hrp0082p3-d2-644 | Adrenals & HP Axis (1) | ESPE2014

Cushings Syndrome without Origin

Queirolo Sara , Balice Piero

Background: Cushings syndrome is a rare entity in children and generally it presents a female to male predominance. The most common cause in childhood is iatrogenic Cushings syndrome related to chronic administration of glucocorticoids or ACTH. Endogenous Cushings syndrome is divided into ACTH dependent (ACTH overproduction due to pituitary adenoma or ectopic production) and in ACTH independent causes (surrenal adenoma, carcinoma, or bilateral hyperplasia).<p class="abstex...

hrp0084p3-1124 | Pituitary | ESPE2015

Sequelae in Giant Prolactinoma in a Teenage Boy

Queirolo Sara , Balice Piero

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

hrp0089p2-p018 | Adrenals and HPA Axis P2 | ESPE2018

A Novel Mutation in the MC2R Gene in a Two-year-old Boy with Adrenal Insufficiency

Al-Khawaga Sara , Hussain Khalid

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

hrp0092p2-112 | Fat, Metabolism and Obesity | ESPE2019

Identification of a Novel Heterozygous Missense Mutation in Low-density Lipoprotein Receptor Gene (LDLR) p.(Met652Thr) in an Emirati Family with Familial Hypercholesterolaemia (FH), Observed Genotype-phenotype Correlations and Pharmacotherapeutic Approaches

Al-Olabi Lara , Suliman Sara , Daggag Hinda

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

hrp0089p3-p254 | Growth &amp; Syndromes P3 | ESPE2018

Woodhouse-Sakati Syndrome: Clinical and Molecular Study on a Qatari Family with C2orf37 Gene Mutation

Al-Khawaga Sara , Khalifa Amal , Hussain Khalid

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...

hrp0092p1-29 | Diabetes and Insulin | ESPE2019

What Hypoglycemia Does to the Heart: Impact of Nocturnal Hypoglycemia on Cardiac Repolarization in Diabetic Children

Bachmann Sara , Auderset Anne , Zumsteg Urs , Szinnai Gabor , Donner Birgit

Background: Hypoglycemia is the most common and most feared complication of insulin treated diabetes. Though mostly asymptomatic, nocturnal hypoglycemia can be fatal in rare cases: sudden nocturnal death is more frequent in diabetic patients than in others. It is postulated that hypoglycemia related QTc prolongation contributes to cardiac arrhythmia and can lead to dead in bed.Objective: To evaluate influence of nocturna...