hrp0092p2-105 | Fat, Metabolism and Obesity | ESPE2019

Cardiopulmonary exercise testing, body composition and metabolic status in young adults after allogeneic human stem cell transplantation for hematological malignancy in childhood

De Waele Kathleen , Tack Lloyd , Coomans Ilse , Dhooge Catharina , Bordon Victoria , Toye Kaatje , Cools Martine , Vandekerckhove Kristof

Introduction: Well-known long-term complications of alloHSCT in childhood include endocrine system damage and secondary malignancies. In addition, adults surviving childhood alloHSCT are at risk of cardiovascular (CV) and metabolic disturbances. Long-term data of physical fitness in correlation with metabolic status are scarce in this particular group.Objective/Patients and Methods: Cross-sectional investigation of exerc...

hrp0086p1-p343 | Gonads & DSD P1 | ESPE2016

Evolution of Bone Mass and Body Composition in Gender Dysphoric Adolescents Treated with Progestins to Suppress Endogenous Hormones

Tack Lloyd , Craen Margarita , Lapauw Bruno , Goemaere Stefan , Toye Kaatje , Kaufman Jean-Marc , Vandewalle Sara , Zmierczak Hans-Georg , Cools Martine

Background: In gender dysphoric (GD) adolescents with advanced pubertal development, psychological relief can be attained with progestins, which are much cheaper and easier to administer than GnRHa. Moreover, use of GnRHa has been shown to interfere with pubertal bone mass accrual. To date, few data exist on the effects of progestins on body composition (BC) and bone parameters in this population.Objective and hypotheses: To explore the effects of pro- a...

hrp0082p2-d3-477 | Hypoglycaemia | ESPE2014

Opioid-Induced Endocrinopathy in a Toddler with Chronic Codeine Intoxication

Van Aken Sara , Van Der Straaten Saskia , De Waele Kathleen , Cools Martine , Craen Margarita , De Schepper Jean

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...

hrp0094p1-166 | Growth B | ESPE2021

The BoneXpert adult height prediction method outperforms the Bayley and Pinneau method in tall male adolescents.

De Schepper Jean , Guisez Tanguy , Wijnand Justine , Cools Martine , Herregods Nele , Marieke den Brinker , Gielen Jan , Ernst Caroline , Gies Inge ,

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

hrp0082fc6.2 | Gonads & DSD | ESPE2014

Next Generation Sequencing of the Androgen Receptor Gene in Patients With Androgen Insensitivity Syndrome and Controls

Hornig Nadine , Schweikert Hans-Udo , Ukat Martin , Kulle Alexandra , Welzel Maik , Wehner Gaby , Werner Ralf , Hiort Olaf , Drop Stenvert , Cools Martine , de Beaufort Carine , Siebert Reiner , Ammerpohl Ole , Holterhus Paul-Martin

Background: In a large fraction of patients with clinically presumed Androgen Insensitivity Syndrome, no mutation of the Androgen Receptor gene can be detected. However, established Sanger sequencing techniques of the AR gene are often limited to the coding region.Objective and Hypotheses: To set up a next generation sequencing (NGS) approach of the entire AR locus (including UTRs, exons, introns, up- and downstream regions) for a comprehensive ...

hrp0095p1-541 | Multisystem Endocrine Disorders | ESPE2022

Severe Systemic Pseudohypoaldosteronism Type 1: 10 years of evolution

Luísa Carvalho Ana , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

hrp0095p2-177 | Growth and Syndromes | ESPE2022

Effects of Somatropin treatment in different groups of patients with indication for replacement therapy: isolated growth hormone deficiency, small for gestational age, Turner syndrome and Prader-Willi syndrome

Afonso Nuno , Luísa Carvalho Ana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Somatropin has been the standard treatment for Growth hormone deficiency (GHD) since 1985. Nowadays, has been approved for the treatment of other diseases, as: Small for gestational age (SGA), Turner syndrome (TS) and Prader-Willi syndrome (PWS).Aims: Assess the efficacy of somatropin in children followed in a tertiary Hospital, at 12 and 24 months of treatment, and to compare the results based on the patie...

hrp0092p3-318 | Late Breaking Abstracts | ESPE2019

Novel Mutation in HNF4-Alpha Gene and Reclassification of Diabetes in a Family

Miguel Gomes Maria , Lemos Manuel C. , Marques Olinda , Martins Sofia , Antunes Ana

11-year-old female, admitted in the emergency room due to postprandial hyperglycemia (350 mg/dL) in her father´s glucometer without ketosis or acidosis. She referred one-month evolution of mild symptoms, as polydipsia, polyuria, sporadic abdominal pain and nocturia.She was the first child of non-consanguineous parents, born full term at vaginal delivery with a birth weight of 3760g (90th percentile). Since 5-years-old her weight was betwe...

hrp0089p3-p362 | Thyroid P3 | ESPE2018

Graves’ Disease in a Pediatric Population: Results from the Last 17 Years at a Pediatric Endocrinology Unit

Carvalho Fabia , Paredes Silvia , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...