hrp0095p1-577 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Pediatric transgender care from an endocrine perspective: experience over the past decade in a tertiary Swiss center

Mazzi Sara , Nussbaum Marie-Lou , Christa Flück E.

Gender dysphoria indicates a psychological distress due to any incongruence between biological sex and gender identity, while transgender identity refers to an individual, whose gender identity is the opposite of the biological sex. The number of gender dysphoric youth seeking hormonal care seems to rise worldwide. Therefore, numerous bioethical and medical controversies are raising about possible side effects of hormonal therapies, including interference with brain developmen...

hrp0092rfc15.3 | Late Breaking Abstracts | ESPE2019

Metformin Treatment Affects ACTH Receptor Activation and Downstream Signaling: A Potential Treatment for ACTH Excess Disorders and Management of Hyperandrogenic States

Parween Shaheena , Pandey Amit V. , Flueck Christa E.

Background: The peptide hormone adrenocorticotropin (ACTH or Corticotropin) is a major component of the stress response system in the Hypothalamus-Pituitary-Adrenal (HPA) axis. Under stress, it is secreted from the anterior pituitary and stimulates cortisol production from the adrenal cortex. Changes in ACTH production or action are associated with multiple disease conditions. In clinical situations like Cushing's disease, ectopic ACTH syndrome and congeni...

hrp0092p1-281 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Virilization of a Girl at Puberty Due to a Unique Translocation of an Abnormal Duplicated Y-Chromosome to a Deleted Chromosome 9 Including the DMRT1 Gene

Graf Stefanie , Aliu Nijas , Zeino Mazen , Flueck Christa E.

Background: Virilization at puberty in girls remains a challenge. Several differential diagnoses must be considered including disorders of sex development (DSD) and tumors.Case Report: We report an 11.5-year-old girl who was referred to our center for progressive cliteromegaly since 6 months. Past medical history was remarkable for prematurity of 36 weeks gestation and for mild ongoing psychomotor delay. At presentation ...

hrp0092p2-3 | Adrenals and HPA Axis | ESPE2019

Contraceptives in Female Adolescents with 21-hydroxylase Deficiency (CAH) - a way to Optimize Treatment with Respect to Androgen Excess? A Pilot Study

Boettcher Claudia , Graf Stefanie , Flück Christa E

Background: At present, treatment of „classic" congenital adrenal hyperplasia (21-hydroxylase-deficiency, 21OHD) consists of glucocorticoid and mineralocorticoid replacement. However, often androgen excess and its negative metabolic impact are difficult to control without accepting glucocorticoid overtreatment, especially in adolescence. In healthy subjects oral contraceptives (containing ethinylestradiol) increase cortisol binding capacity and free c...

hrp0089fc1.3 | Adrenals & HPA Axis | ESPE2018

Targetting the Binding of ACTH to the Melanocortin Receptor by Structure Modeling and Design of Peptide antagonists to Block Excess Androgens in 21-hydroxylase Deficiency

Parween Shaheena , Fluck Christa E , Pandey Amit V

Background: The adrenocorticotropic hormone (ACTH) is a 39 amino acid polypeptide secreted by the anterior pituitary and regulates cortisol secretion from the adrenal cortex. Cortisol has negative feedback and regulates the synthesis and secretion of the ACTH. Excess ACTH is associated with a wide range of diseases including congenital adrenal hyperplasia (CAH). Classic CAH due to the 21-hydroxylase (CYP21A2) deficiency causes a reduction or loss of cortisol synthesis. Here th...

hrp0089p2-p246 | Growth & Syndromes P2 | ESPE2018

Poor Weight Gain in Prader-Willi Syndrome – Not Always Over-restriction Consider Coeliac Disease

Lateva M , Kassim A , Meade C , Maher R , McCrann A , Roche E

Introduction: Prader-Willi Syndrome (PWS) is a complex genetic condition associated with feeding difficulties, hypotonia, developmental delay in infancy; hyperphagia leading to extreme obesity, growth failure and behavioral problems in childhood. Coeliac disease (CD), is an autoimmune disease characterized by gluten intolerance and a variety of symptoms most commonly diarrhea or constipation and failure to thrive. In PWS the challenge is to optimize growth while avoiding obesi...

hrp0089p2-p261 | Growth & Syndromes P2 | ESPE2018

Two Different Variants of Short Stature Homeobox-Containing Gene (SHOX) Mutation in the Same Family

Graf Stefanie , Santi Maristella , Losekoot Monique , Fluck Christa E.

Objectives: Deficiency of the short stature homeobox-containing (SHOX) gene is a potential etiology of short stature in children. The phenotypic spectrum of SHOX deficiency disorders, caused by haploinsufficiency of the SHOX-gene and inherited in a pseudo-autosomal dominant manner, is highly variable, even within the same family, ranging from nonspecific short stature to Leri-Weill dyschondrosteosis (LWD). Short stature, mesomelia and Madelung deformity define the classic clin...

hrp0089p2-p287 | Multisystem Endocrine Disorders P2 | ESPE2018

Endocrine Challenges in Patients with Thalassemia

Haamberg Tanja Christa , Schneider Christine , Rossler Jochen , Fluck Christa E

Introduction: Beta-thalassaemia is caused by point mutations leading to decreased production of beta-globin, which results in defective red blood cells and ineffective erythropoiesis. Complications are microcytic hypochromic anaemia, extramedullary haematopoiesis and increased intestinal iron absorption due to compensation mechanisms. The resulting iron overload can be aggravated by recurrent blood transfusions necessary for treatment of anaemia and may cause several endocrine...

hrp0086p1-p20 | Adrenal P1 | ESPE2016

HIV Drugs as a Possible Cause for Transient 21-Hydroxylase Deficiency in a Preterm Infant

Haamberg Tanja , Bullo Marina , McDougall Jane , Fluck Christa E.

Background: Transient neonatal adrenal dysfunction is reported in association with antiretroviral therapy with Lopinavir and Ritonavir. Other drugs have not been tested.Objective and hypotheses: We report on a preterm girl, born 26 weeks gestation, with elevated 17-hydroxyprogesterone (17OHP) at newborn screening. During pregnancy the mother was treated for HIV with Atripla (Efavirenz, Tenofovir, Emtricitabin) and viral load was suppressed. Furthermore t...

hrp0086p2-p329 | Diabetes P2 | ESPE2016

The Prevalence of Dyslipidemia and Associated Factors in Children and Adolescent with Type I Diabetes

Bulut Tuba , Demirel Fatma , Metin Ayşe

Background: Dyslipidemia increases the frequency and severity of micro- and macro-vascular complications of type 1 diabetes.Objective and hypotheses: The present study aims to determine the prevalence of dyslipidemia and its association with clinical and laboratory findings in diabetic children and adolescents.Methods: The study included 202 children and adolescents with type 1 diabetes. Demographic data and laboratory findings wer...