hrp0086p2-p584 | Perinatal Endocrinology P2 | ESPE2016

A Unique IL2RA Mutation Presenting as Neonatal Diabetes, Congenital Hypothyroidism and Sepsis

Sri Nagesh V. , Hattersley Andrew , Ellard Sian , De Franco Elisa , Flanagan Sarah , Naseem Altaf , Ahmed A. , Ahmed Tanveer , Venkateswarlu K.

Background: 16 year old female neonate presented with neonatal diabetes, congenital hypothyroidism and sepsis.Objective and hypotheses: To evaluate the neonate for a common cause of neonatal diabetes, congenital hypothyroidism and sepsis and to explore for the best modality of management, including a possible role for sulphonylureas.Method: The neonate born of 3rd degree consanguinity was admitted and started on insulin infusion an...

hrp0095p2-25 | Adrenals and HPA Axis | ESPE2022

Premature adrenarche: A common disease with a novel presentation

Raafat Shaymaa

Introduction: Premature adrenarche refers to appearance of pubic hair and sometimes axillary hair before eight and nine years in girls and boys respectively. The most constant sign is the appearance of pubic/axillary hair. Furthermore, other signs of androgen effect (adult type body odor, acne, greasy hair, accelerated statural growth) are valuable to complete the diagnosis. However, it is important to be mentioned that no virilization signs are associated wit...

hrp0095p1-211 | Adrenals and HPA Axis | ESPE2022

Effect of maternal steroid medication prescribed during pregnancy on neonatal adrenal function

Ahmed Aneeq , Hattangadi Ibani , Gopalakrishna Nagapratheek , De Silva Shamani , Elder Charlotte , Ferguson Elspeth

Background: There is limited data supporting concerns that systemic corticosteroids, prescribed in pregnancy for maternal health reasons, can suppress the neonatal Hypothalamic-Pituitary-Adrenal (HPA) axis. Our study aimed to determine if neonates born to mothers on long-term or high dose steroids are at risk of adrenal suppression.Methodology: Neonates who underwent assessment of adrenal function over a seven-year perio...

hrp0095p1-278 | Fat, Metabolism and Obesity | ESPE2022

e-REC Capturing The Occurrence and Burden Of COVID-19 Infections In People With Rare Genetic Obesity Disorders

Kerkhof Gerthe , Wabitsch Martin , Bryce Jillian , Johannsson Gudmundur , Ahmed Faisal , van den Akker Erica

Introduction: Following the onset of the COVID-19 pandemic in spring 2020, the European Registries For Rare Endocrine Conditions (EuRRECa), which is a collaboration between Endo-ERN, ESPE and ESE provided the possibility for registration of cases. Obesity is a risk factor for severe COVID-19 disease course in adults. In children and adolescents, COVID-19 disease course is much milder, but has also been identified as risk factor. As rare genetic obesity disorde...

hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0095p2-57 | Diabetes and Insulin | ESPE2022

Outcome of positive adrenal antibodies identified on screening in children with T1DM

Pinsker Jonathan , McNeilly Jane , Whyte Karen , Kuehne Vaiva , Faisal Ahmed S , Guftar Shaikh M

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...

hrp0095p2-62 | Diabetes and Insulin | ESPE2022

Time Trend and Potential Risk Factors for Celiac Disease Development in Children with Type 1 Diabetes Mellitus-10-year Single Center experience

Ahmed Fatima , Al Jneibi Sara , Rajah Jaishen , Chedid Krystel , Al Remeithi Sareea

Background: Celiac disease (CD) is an important association with type 1 diabetes (T1DM) with a significant impact on growth and glycaemic control. The frequency of coexistence of T1DM and CD is widely described, ranging from 2.5 to 16.4% in 23 studies worldwide, much greater than the general population risk of 1%. The risk of CD is higher among younger children (less than 4 years), females and during the first few years of T1DM diagnosis. Objectives: We aimed ...

hrp0095p2-243 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Delayed puberty by anomalies hypo-gonadotropic hypogonadism, hyper-gonadotropic hypogonadism and puberty induction

Asmae Touzani , Douaa Abdallaoui , Yamna Kriouile , Zineb Imane , Abdellah Dami , Lhousaine Balouch , Ahmed Gaouzi

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...

hrp0095p2-260 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Analysis of the spectrum of disorders of sex development in Diabetes, Endocrine and Metabolism Pediatric Unit, Cairo University, Egypt

Abdelghaffar Shereen , Sheba Maha , Mira Marwa , Radwan Noha , Nasr Abdelmonem Engy , Ahmed Samah

Background: The incidence of Disorders of sex development (DSD) in Egypt was reported to be 1 in 3,000 live births. Late diagnosis, severe salt wasting with high morbidity and mortality, and inappropriate sex -assignment are challenging problems that constitute medical and social emergencies. Serum Anti Mullerian Hormone (AMH) and Inhibin B levels are possible tools for assessment of Sertoli cell function that can help early diagnosis of patients with suspecte...

hrp0095p2-278 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Delayed puberty by anomalies hypo-gonadotropic hypogonadism, hyper-gonadotropic hypogonadism and puberty induction

Touzani Asmae , Abdallaoui Douaa , Kriouile Yamna , Zineb Imane , Dami Abdellah , Balouch Lhousaine , Gaouzi Ahmed

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...