hrp0095p1-339 | Multisystem Endocrine Disorders | ESPE2022

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

Rakicioglu H. , Kamrath C. , Genthner N. , Karatsiolis P. , Reincke M. , A. wudy S.

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

hrp0094p1-97 | Thyroid A | ESPE2021

The association between serum Thyrotropin within the reference range and cardiometabolic risk in obese children

Tropeano Angelo , Corica Domenico , Curatola Selenia L. , Pomi Alessandra Li , Casto Celeste , Pepe Giorgia , Aversa Tommaso , Alibrandi Angela , Wasniewska Malgorzata ,

Background: The adaptative increase of serum thyrotropin (TSH) levels in obese subjects may affect the metabolic regulation of body tissues and thus promote an unfavorable cardiometabolic profile.Aim: To investigate the association between serum TSH, free thyroxine (FT4) and cardiometabolic risk factors in euthyroid obese children and adolescents.Material and Methods: Four hundred ninety-one Caucas...

hrp0092p2-147 | Fetal, Neonatal Endocrinology and Metabolism (to include Hypoglycaemia) | ESPE2019

A Rare Cause of Pediatric Hypoglycemia in a Boy: A Malignat Insulinoma

Valenzise Mariella , Zirilli Giuseppina , Cannavo' Laura , Passanisi Stefano , Li Pomi Alessandra , Wasniewska Malgorzata

Insulinoma is a rare neuroendocrine tumor, usually benign, but can be life-threatening in causing hypoglycemic accidents. It presents in individuals aged between 8 and 82 years and can occur sporadically or constitute a part of multiple endocrine neoplasia type 1 (MEN-1).The nonspecific-symptoms and small size of these tumors led to difficulties of diagnosis and localization.Here we describe the case of a 11-year-old boy, who came to our attention for a ...

hrp0098p3-36 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

A 5-year-old girl with severe nutritional rickets mimicking hypophosphatemic rickets (XLH)

Giulia Lambertini Anna , Lumaca Alessandra , Ortolano Rita , Baronio Federico , Zucchini Stefano

The measurement of serum FGF23 plays a pivotal role in the differential diagnosis of patients with hypophosphatemia. However, its interpretation may be difficult in some cases. We report the case of a child with rickets and severe hypophosphatemia, where both intact FGF23 (iFGF23), the active form, and C terminal FGF23 fragments (C-FGF23) were measured.Case report: A 5.7-year-old girl, born at term from first-grade-related Pakistani pare...

hrp0084p1-20 | Bone | ESPE2015

24-Hydroxylase Polymorphism as a Possible Contributor to the Increased 1,25(OH)2D in African Americans

Carpenter Thomas O , Cole David E C , Ardeshirpour Laleh , Salehpour Shadab

Background: States of vitamin D insufficiency are important determinants of rickets, as well as osteoporosis and other common complex disorders like diabetes, cancer, and infectious diseases. Although, serum concentrations of the vitamin D metabolites are primarily driven by vitamin D supply (by diet or cutaneous synthesis), there is emerging evidence to suggest that single nucleotide variants (SNVs) are important genetic determinants.Objective and hypot...

hrp0098fc15.2 | Late Breaking | ESPE2024

Amount and Pattern Of Pulsatile GH Secretion Induced By The Oral Growth Hormone Secretagogue LUM-201 Is Related To Growth And IGF-1 Responses In Moderate Pediatric Growth Hormone Deficiency (PGHD)

Roslan Amirul , Román Rossana , Avila Alejandra , Said Daniela , Baier Ingrid , L. Brincks Erik , Bruchey Aleksandra , C. McKew John , Duke Pitukcheewanont Pisit , L. Johnson Michael , Garner Terence , O. Thorner Michael , E. Clayton Peter , Stevens Adam , Cassorla Fernando

Background: Oral LUM-201 normalizes growth rates in moderate PGHD over 12 months (Phase 2 Trials: OraGrowtH210/OraGrowtH212) [FC-746 ESPE 2024]. In OraGrowtH212, GH profiles, based on 10-minute sampling over 12 hours (8am-8pm), showed significant increases in inter-pulse, pulsatile and total GH secretion in response to 1.6 and 3.2 mg/kg/day doses of LUM-201 over 6 months, with no difference between the doses [FC14.3, ESPE 2023].O...

hrp0089p1-p052 | Diabetes & Insulin P1 | ESPE2018

Genetic Susceptibility to Type 1 Diabetes in Children: Analysis of Polymorphisms rs1990760 – IFIH1, rs20541 – IL13, rs231775 – CTLA 4

Goralczyk Aleksandra , Bossowski Artur , Goscik Joanna , Wawrusiewicz-Kurylonek Natalia , Bossowska Anna , Kretowski Adam

Background: Type 1 Diabetes is influenced by genetic and environmental factors. Cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene polymorphism and The interferon induced helicase domain 1 (IFIH1) gene are known to be associated with T1DM, but have not been established in a Caucasian children population yet. The interleukin 13 (IL13) gene polymorphisms impact on the development of Type 1 DM in children has not been reported yet.Objective and hypotheses: To e...

hrp0086p1-p364 | Gonads & DSD P1 | ESPE2016

Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)

Baldazzi Lilia , Menabo Soara , Baronio Federico , Ortolano Rita , Cassio Alessandra , Mazzanti Laura , Balsamo Antonio

Background: Differences of sex development (DSDs) (conditions with atypical development of chromosomal, gonadal or anatomic sex) are classified into three groups: sex chromosome DSD, 46,XYDSD and 46,XX DSD. Around 1 newborn in 5000 presents ambiguous genitalia with a major challenge for male or female assignment. The identification of a genetic cause can contribute to a correct diagnosis and to optimize both management and genetic counselling.<p class="abs...

hrp0082s8.2 | Novel Therapies in Paediatric Endocrinology | ESPE2014

Treatment of Hypophosphatasia

Greenburg C

Hypophosphatasia (HPP), an inborn-error-of-metabolism, has broad-ranging severity caused by inactivating mutation(s) in the gene for tissue non-specific alkaline phosphatase (TNSALP). HPP in children features premature loss of deciduous teeth often with impaired skeletal mineralization, poor growth, static myopathy, and compromised physical function. To date there are no approved treatments for HPP. Perinatal and infantile forms have very high morbidity and mortality and the j...

hrp0092p2-75 | Diabetes and Insulin | ESPE2019

Insulin Treatment of Cystic Fibrosis Related Diabetes (CFRD) on BMI and Respiratory Function

Giugno Andrea , Lo Presti Donatella , Leonardi Salvatore , Parisi Giuseppe , Timpanaro Tiziana , Papale Mariella , Rotolo Novella , Sauna Alessandra , Caruso-Nicoletti Manuela

Cystic fibrosis related diabetes (CFRD) is one of the main complications of cystic fibrosis (CF), following inflammatory-degenerative damage of the pancreas. Aim of our study was to evaluate the effects of replacement insulin therapy in patients with cystic fibrosis complicated by overt diabetes or pre-diabetes on BMI and respiratory function. We selected a sample of 17 insulin treated patients (Group T) and a sample of 17 controls with CF but normal glucose metabolism (Group ...