hrp0092mte3 | Turner syndrome - Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome: Proceedings from the 2016 Cincinnati International - Turner Syndrome Meeting | ESPE2019

New International Guidelines on Turner Syndrome

Gravholt Claus H.

Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. Numerous important advances have been noted during recent years. These advances cover all specialty fields involved in the care of girls and women with TS. This new international guideline is based on an international effort with emphasis on 1) diagnostic and genetic issues, 2) growth and development during child...

hrp0084wg2.7 | Diabetes Technology and Therapeutics Thursday, 1 October | ESPE2015

The Rationale and Potential Role of Surgery in the Treatment of Adolescent Diabetes

Inge Thomas H

Background: Type 2 diabetes mellitus (T2DM) is a chronic and disabling disease affecting increasing numbers of adolescents. Conventional medical therapy presents unique challenges and seldom stalls progression.Objective and hypotheses: The objective of this presentation is to discuss the findings of contemporary, controlled, and prospective trials of surgical therapy for adult T2DM, which demonstrate dramatic early glycemic control, improvement in cardio...

hrp0094wg8.2 | ESPE Working Group on Turner Syndrome Symposium | ESPE2021

Turner syndrome and hormone replacement therapy

Gravholt Claus H. ,

Turner syndrome is a condition in females missing a sex chromosome (45,X) or parts of the second sex chromosome. It is considered a rare condition and associated with a range of characteristics, such as short stature, ovarian dysgenesis, delayed puberty and infertility, congenital malformations of the heart, endocrine disorders, including a range of autoimmune conditions and type 2 diabetes. Morbidity and mortality is clearly increased compared with the background population a...

hrp0092p1-319 | Diabetes and Insulin (2) | ESPE2019

Gene Dosage Changes in the GCK Gene not Detected by Sanger DNA Sequencing in Two Patients with Phenotypic MODY 2

Birkebaek Niels H. , Brusgaard Klaus

Background: Maturity onset diabetes of the young 2 (MODY2) is phenotypically characterized by elevated fasting and post-prandial blood glucose (BG) levels and no diabetes auto-antibodies. Inheritance is autosomal dominant, and it is caused by variants in the glucokinase (GCK) gene with resetting of the pancreatic glucose sensor to a higher level. It is essential to detect MODY 2 patients as they do not require treatment.Objective...

hrp0089p2-p397 | Thyroid P2 | ESPE2018

Hypothyroidism in a Child During Treatment with Nivolumab for a Glioblastoma

H Birkebaek Niels , Dahl Christine

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

hrp0089p3-p271 | Multisystem Endocrine Disorders P3 | ESPE2018

Polyostotic Fibrous Dysplasia of McCune Albright Syndrome Responding to Intravenous Zoledronate Therapy

H K Ganesh , K M Girisha

Introduction: McCune Albright Syndrome consists of at least 2 of the following 3 features: (1) polyostotic fibrous dysplasia (PFD), (2) Café au lait macules and (3) autonomous endocrine hyperfunction (eg, gonadotropin-independent precocious puberty). Other endocrine syndromes include hyperthyroidism, acromegaly, and Cushing syndrome.Case: 2 year old girl presented with severe hip pain, inability to walk and progressive deformity of right lower limb....

hrp0092p1-114 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Obesity in Boys is Not Associated with Delayed Pubertal Onset

Busch Alexander , Højgaard Brigitte , Hagen Casper , Teilmann Grete

Context: Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal timing within the normal BMI range. However, observations in obese boys are conflicting with different studies reporting either early or delayed pubertal onset in obese boys.Objectives: We aimed to assess the association of clinically assessed initial milestones of male puberty...

hrp0092p1-363 | GH and IGFs (2) | ESPE2019

Metabolism of Somapacitan, a Long-Acting Growth Hormone Derivative, in Human Subjects

Damholt Birgitte B , Bjelke Mads , Helleberg Hans , Rasmussen Michael H

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

hrp0089p2-p192 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Hyperinsulinemic Hypoglycemia in Congenital Disorder of Glycosylation Type-1a (CDG-1a)

Vuralli Dogus , Yildiz Yilmaz , Serap Sivri H. , Alikasifoglu Ayfer

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

hrp0084p2-310 | DSD | ESPE2015

Management of Gonads in Adults with Androgen Insensitivity: An International Survey

Maris Ellen , Looijenga L H J , Cools Martine

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...