hrp0084p3-1178 | Thyroid | ESPE2015

Short Stature with Lipodystrophy: Reminder of a Forgotten Syndrome

Kumar Rakesh , Rifkin Robin , Ehtisham Sarah

Background: The combination of various severe manifestations of hypothyroidism with pseudo muscular hypertrophy is called Kocher Debre Semelaigne syndrome (KDS). KDS is very rare in countries where newborn screening for hypothyroidism is in place. Most of the reports of KDS have come from India and developing countries with only a single report from Europe over last five decades. We present a 7-year-old boy from UK who had short stature and apparent partial lipodystrophy.<...

hrp0094p1-196 | Thyroid B | ESPE2021

Clinical and Molecular Presentation of Congenital Hypothyroidism Caused by Thyroglobulin Gene Mutations

Bakhamis Sarah , AlSagheir Afaf , AlShareef Itizan ,

Background: Congenital hypothyroidism (CH) characterized by a deficient secretion of thyroid hormone in newborn. It is the most common endocrine disease in the children with an incidence rate about 1: 3000 live births in Saudi Arabia. Thyroid dysgenesis and dyshormonogenesis are the most common causes. Thyroid dyshormonogensis commonly inherited as autosomal recessive disorders. Although Thyroglobulin followed by TSHR mutations are the most common genetic defe...

hrp0089p2-p369 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Assessment of Initial Investigation Requested in Adolescents with Menstrual Disorders

Charamanta Maria , Michala Lina , Drakakis Peter , Yasmin Ephia , Creighton Sarah

Backround: Menstrual disorders are common among the adolescent girls. We examined the initial investigations performed in adolescents, presenting with frequent, heavy or painful periods. Although, usually abnormal uterine bleeding (AUB) in adolescent women is attributable to immaturity of the hypothalamic-pituitary-ovarian axis, underlying conditions such as coagulation disorders and anemia should always kept in mind. However, neither the laboratory nor the ultrasound investig...

hrp0086p1-p22 | Adrenal P1 | ESPE2016

An Assessment of the Hypothalamic–Pituitary–Adrenal Axis in Children with Prader–Willi Syndrome

Kyriakou Andreas , Lewis Sarah , Coveney John , Roche Edna F.

Background: In children with Prader–Willi Syndrome (PWS), hypothalamic dysfunction plays a key role in the development of aberrant energy regulation, sleep-related breathing disorders, hypogonadism and impaired linear growth. Dysfunction of the hypothalamic–pituitary–adrenal (HPA) axis may contribute to the high incidence of sudden death. The prevalence and the extent of the dysfunction of HPA axis remain unclear.Method: Thirty-one (10M/21...

hrp0086p1-p116 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Clinical and Molecular Characterization of 25-Hydroxylase Deficiency in Saudi Patients

Imtiaz Faiqa , Bakhamis Sarah , AlSagheir Osamah , AlRajhi Abdulrahman

Background: Vitamin-D deficiency becomes a worldwide issue, and major cause of rickets in younger age groups. Multiple causes lead to vitamin-D deficiency in which nutritional causes contribute the major factor. The synthesis of bioactive vitamin-D requires hydroxylation at 1α and 25 positions by cytochrome-P450 in the kidney and liver, respectively. Recently, human CYP2R1 has been reported as a major factor for 25-hydroxylation, in which it contributes for the inherited ...

hrp0086p1-p488 | Fat Metabolism and Obesity P1 | ESPE2016

Glucose Metabolism In Children with Prader-Willi Syndrome: The Effect Of Gh Therapy

Grugni Graziano , Fintini Danilo , Bocchini Sarah , Crino Antonino

Background: Numerous studies have shown that PWS patients demonstrate the preservation of insulin sensitivity despite severe obesity. Data about insulin secretion in PWS however, are still conflicting. Other reports showed that PWS subjects and simple obese controls had similar insulin levels and were both insulin resistant. These discrepancies could be due to the different clinical characteristics of the study groups, including age, weight excess levels and the presence/absen...

hrp0084p2-299 | Diabetes | ESPE2015

Improving Glycaemic Control at Diagnosis of Type 1 Diabetes: Insulin Dosing Depending on Degree of Ketonaemia at Presentation

Kiff Sarah , Noyes Kathryn , Nimmo Ailish , Bath Louise

Background: The effects of metabolic memory highlight the importance of good glycaemic control following diagnosis of type 1 diabetes (T1D). There is relative insulin resistance at diagnosis, particularly in the presence of ketonaemia. Local prescribing guidelines reflect this with higher insulin starting doses with ketonaemia.Objective and hypotheses: Current insulin dosing guidance for children with newly diagnosed T1D appeared insufficient to achieve ...

hrp0094p1-98 | Thyroid A | ESPE2021

Hypothyroid Screening in Children with Down Syndrome - A Service Evaluation

Harley Rachael , Smith Sarah , Hamza Sherin , Shaikh M. Guftar ,

Background: Individuals with Down Syndrome are at an increased risk of developing thyroid disease. Given that thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroi...

hrp0095p1-369 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Prevalence of Overweight and Obesity in a Transgender Youth Cohort

Knaus Sarah , Steininger Johanna , Häusler Gabriele , Riedl Stefan

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...

hrp0095p1-580 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A rare case of 46,XY difference of sexual development (DSD) due to combined homozygous CYP17A1 and heterozygous CYP21A2 mutations with a unique phenotype and hormone profile

Aikaterini Stasinaki , Sarah Oberhauser , Dagmar l'Allemand-Jander

Background: 17a-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia (CAH). 46,XY infants may present with ambiguous genitalia. Adrenal crises are rare due to compensatory glucocorticoid action of the overproduced corticosterone.Case: A 3-month-old boy underwent a complication-free externalization of concealed penis and circumcision by a paediatric surgeon. At the age of 2.5 years, the boy...