hrp0086con1.2 | Challenges in the Management of DSD | ESPE2016

Surgical Management of DSD: New Insights

Creighton Sarah

Traditional medical management of children born with atypical genitals includes genital surgery during early childhood. Young children cannot give informed consent and surgery is usually undertaken after a decision made by the multidisciplinary team with parental input. Long-term outcomes are uncertain and there is scanty research supporting the benefits of surgery on physical or mental well-being. Adult patients clearly describe the distress of multiple genital operations dur...

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...

hrp0092s8.2 | Autoimmunity: From Diagnosis to Treatment | ESPE2019

Monogenic Forms of Autoimmune Diabetes: Challenges and Opportunities

Flanagan Sarah

Monogenic autoimmune diabetes results from a single highly penetrant mutation that causes autoimmunity leading to destruction of the beta-cells. Identifying monogenic autoimmune diabetes can be a challenge; early-onset type 1 diabetes (T1D) can cluster with additional autoimmune diseases due to shared polygenic risk, particularly from the HLA DR3 and DR4 alleles, and islet and other organ specific autoantibodies are present in patients with both monogenic and polygenic aetiolo...

hrp0094p2-320 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Unusual Case of Gastrointestinal Bleeding; Expecting the Unexpected

Brooke Sarah ,

Introduction: To investigate the association between Turners Syndrome (TS) and Gastrointestingal Stromal tumours (GIST) in a single case study. There is a known link between RASopathies such as TS and solid tumours (gonadoblastoma, neuroblastoma and brain tumours,) however no known link between TS and GIST. The aim is to increase awareness into a rare condition and discuss growth hormone (GH) therapy.Case: An 11-year-old girl with backgr...

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...

hrp0092p1-64 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

Hyperinsulinaemic Hypoglycaemia: A New Presentation of 16p11.2 Duplication Syndrome

Conwell Louise , Flanagan Sarah

Introduction: De novo and inherited cases of 16p11.2 microdeletion and duplication syndromes have a spectrum of clinical manifestations, with incomplete penetrance and variable expressivity.16p11.2 copy number variants have shared phenotypic features (autism, developmental delay). Mirror phenotypes have also been described: deletions – obesity, hyperphagia, macrocephaly; duplications – underweight, feeding/eating disor...

hrp0094p2-154 | Diabetes and insulin | ESPE2021

Neonatal Diabetes Secondary to Isolated Pancreatic Agenesis

Bakhamis Sarah , AlSagheir Afaf ,

Background: Pancreatic agenesis has been reported as a cause of neonatal diabetes. Most commonly it was associated with severe neurodevelopmental problems caused by homozygous mutations in the transcription factor PTF1A. Isolated pancreatic agenesis was related to biallelic mutations in an enhancer located near PTF1A gene, which suggests that the enhancer is tissue specific to the pancreas. PDX1 is another transcription factor gene in which biallelic mutation ...

hrp0092p3-258 | Thyroid | ESPE2019

The Challenge to Treat Neonatal Autoimmune Hyperthyroidism in a Small Preterm

Lignitz Sarah , Coors Detlef , Pohlenz Joachim

Background: The prevalence of hyperthyroidism in pregnancy is about 0.2%, mostly due to Graves disease. Neonatal autoimmune hyperthyroidism caused by the transplacental passage of stimulatory thyrotropin receptor antibodies (TRAB) of the IgG class is a rare disorder. It occurs in only 2% of the neonates of mothers with Graves disease, is transient and associated with high morbidity and mortality rates up to 25%. Antithyroid drugs are the treatment ...

hrp0082p1-d2-28 | Autoimmune Endocrine Disease | ESPE2014

Immune Changes are Observed After Radioiodine Treatment for Hyperthyroidism in Graves’ Disease Patients

Cote-Bigras Sarah , Verreault Jean , Rottembourg Diane

Background: Graves’ disease (GD) involves autoimmunity against TSH receptor (TSHR) bearing cells, leading to hyperthyroidism and often orbitopathy. When hyperthyroidism is treated with radioactive iodine (RAI), exacerbation of the orbital disease can occur.Objective and hypotheses: We hypothesized that RAI has immune effects affecting the balance between auto-reactive T cells and T cells with regulatory properties.Method: We m...

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.<...