hrp0098fc12.6 | Thyroid | ESPE2024

The First Robust Bioavailability/Bioequivalence (BA/BE) Study of Thyromimetic Tiratricol, a Treatment in Development for MCT8 Deficiency.

Sonesson Christian , Carroll Kevin , Singh Nand , McDermott John , Sjöblom Nygren Kristina , Näsström Jacques , Paul A Dickinson

Background and Objectives: MCT8 deficiency is a debilitating, ultra-rare, X-linked disorder resulting from dysfunctional thyroid hormone (TH) transport. A lack of TH in the brain results in profound neurodevelopmental delay while a co-existing excess of TH in tissues outside the brain leads to symptoms of chronic thyrotoxicosis. Tiratricol is a naturally occurring metabolite of triiodothyronine (T3) that clinical trials have shown can restore normal TH signall...

hrp0089p3-p131 | Fat, Metabolism and Obesity P3 | ESPE2018

Development of Severe Obesity in a Children with a Brainstem Tumor

Pihoker Catherine , Roth Christian

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

hrp0095p1-382 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Accidental transdermal estradiol exposure leading to gynecomastia and bone age acceleration in a 7 year old boy: a case presentation

Winner Kay , Denzer Christian , Wabitsch Martin

Case presentation: A 7 year old boy was presented to us with height acceleration, symmetric breast development equivalent to Tanner stage B2 and sparse dark hair in the pubic region (PH2). Testicular volume equaled to 2ml, while external genitalia showed no clear signs of androgen effect. The patient’s biological father is a transgender woman who started a medical gender transition before the patient’s birth. She has been continuously receiving tra...

hrp0086wg3.1 | ESPE Turner Syndrome Working Group (TS) | ESPE2016

Spontaneous Fertility and Pregnancy Outcomes in Turner Syndrome

Christin-Maitre Sophie

Background: Turner syndrome (TS) occurs in 1/2000 newborn girls. Primary ovarian insufficiency (POI), due to an increased follicular apoptosis, is a classic feature of TS. It occurs in more than 95% of TS patients. Therefore, oocyte donation is often the only option for women desiring a pregnancy.Objective and hypotheses: Few studies have reported the outcome of spontaneous pregnancies (SP) in TS patients.Method: We evaluated the p...

hrp0084p1-101 | Perinatal | ESPE2015

Does Type 1 Childhood Diabetes Start In Utero?

Laron Zvi , Hampe Christiane , Shulman Lester

Background: In the last decades a rapid increase in the incidence of childhood type I diabetes (TIDM) has been reported worldwide. To stop the progressively advancing process immunosuppressive and nutritional trials have been made, but failed. Epidemiological studies by our group performed in several countries have shown that the season during which children who developed TIDM were born differed from that in the general population; suggesting that the initial trigger for TIDM ...

hrp0089rfc15.3 | Growth and syndromes | ESPE2018

Multiple Pituitary Hormone Deficiencies and Early Onset Obesity in Two Siblings with a Mutation in the MAGEL2-gene: Evidence for an Important Regulatory Function of the MAGEL2-gene in the Hypothalamic-Pituitary Hormone Pathways

Kuhnle-Krahl Ursula , Shoukier Moneef , Schaaf Christian P , Land Cristoph

We have investigated two siblings, a sister and a brother, who presented at the age of 2 years, with central hypothyroidism, short stature and early onset obesity. The older sister presented at the age of 6 months with central hypothyroidism and was started on a low dose of thyroid hormone (25 ug l-thyroxine). Her growth continued to be poor and at the age of 2 years and 6 months her height was −3.98 SDS. She was started on growth hormone followed by a rapid catch-up gro...

hrp0082p1-d3-134 | Fat Metabolism & Obesity (2) | ESPE2014

Can Hypothalamic Obesity be Treated with Stimulants?

Denzer Friederike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

hrp0084p1-49 | Diabetes | ESPE2015

Can Hypothalamic Obesity be Treated with Stimulants? Follow Up

Denzer Friederike , Lennerz Belinda , Vollbach Heike , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine, a CNS stimulant on impetus and weight in patients with hypothalamic obesity. Based on these observations, patients presenting to our obesity clinic with hypothalamic obesity are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2015, patients starting dexamphetamine treatment were enrolled in a prospective observation study. A r...

hrp0098p2-127 | Fat, Metabolism and Obesity | ESPE2024

MC4R variant in a four-generation family with early-onset severe obesity

Giannopoulou Eleni , Schirmer Melanie , Denzer Christian , Wabitsch Martin

Introduction: Heterozygous variants of the melanocortin-4 receptor gene (MC4R) are the most common cause of monogenic obesity. Until recently, patients with monogenic obesity often underwent a frustrating diagnostic and therapeutic odyssey of years of ineffective lifestyle interventions before a causal diagnosis was made. Data from case reports suggest that individuals with obesity caused by heterozygous MC4R pathogenic variants can be effect...

hrp0094p2-97 | Bone, growth plate and mineral metabolism | ESPE2021

Hungry Bone Syndrome associated to Rickets

Jimenez Catalina , Seiltgens Cristian ,

Introduction: Hereditary causes of rickets often take longer to be diagnosed because they are not very frequent. 1α-hydroxylase alteration is the most frequent vitamin D-dependent rickets. A delay in the treatment associated to a late diagnosis generates an abrupt parathormone deficiency. When initiating treatment, these patients have a risk of hungry bone syndrome.Case: 2-year-8-month-old male patient, with a history of psychomotor...