hrp0092p3-327 | Late Breaking Abstracts | ESPE2019

Severe Hypercalcaemia After Years on The Ketogenic Diet: A Novel Case Report

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

hrp0086p2-p294 | Diabetes P2 | ESPE2016

Differences in Hba1c among Different Ethnicities; Is it just a Matter of Mean Glycaemia?

Cocca Alessandra , Holloway Edward , Chapman Simon , Iafusco Dario , Hulse Tony

Background: Several studies have described ethnic differences in HbA1c. Non-Caucasian patients have been found to have an higher HbA1c than the Caucasian ones. These differences have often been attributed to disparities in access to medical care or quality of the care.Objective and hypotheses: Differences in Hba1c among the ethnicities could be related not only to mean glycaemia. The aim of our study was to observe if, at the same level of mean glucose, ...

hrp0082p3-d2-640 | Adrenals & HP Axis (1) | ESPE2014

Therapeutic Troubles of Cushing’s Disease in Adolescence: Report of a Case

Deiana Manuela , Losa Marco , Trettene Adolfo , Scolari Alessandra , Salvatoni Alessandro

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...

hrp0092p1-149 | Thyroid | ESPE2019

Central Hypothyreoidism with Pituitary Enlargement and No Gene Alterations

Gucev Zoran , Trajanova Despina , Krstevska-Konstantinova Marina , Janchevska Aleksandra

Introduction: Central hypothyroidism is due to a deficiency of TRH/TSH.Patient and Methods, Results: A 9 year old boy (07 Aug. 20) was referred for proportionate short stature (-2.7 SD). He complained of fatigue and had mild peripheral edema. His baseline T4 was 2.9 ug/dL(ref. 4.50-12.50 ug/dL) and TSH 0.04 uIU/ml (0.400-4.00). The TRH test showed low TSH <0.004 Ulu/ML (ref. 0.400-4.00) and low T4 2.70 (ref. 4.50-12....

hrp0092p2-216 | Multisystem Endocrine Disorders | ESPE2019

Hypothyroidism in a Two and a Half Year-Old Boy with an Angelman Syndrome (AS)

Janchevska Aleksandra , Bozinovski Georgi , Jordanova Olivera , Tasic Velibor , Gucev Zoran

Introduction: Angelman syndrome is caused by de novo maternal deletions in 15q11-q13 region of chromosome 15 in approximately 70% of affected children.Patient and Methods: A two and a half year-old boy with hypotonia, absence of speech, low weight (-4.38 SDS) and short stature (-1.14 SDS) had pale skin and typical facial features with wide and prominent forehead, low-lying ears, wide mouth, small and widely spaced te...

hrp0086p2-p795 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) in Children Born Small for Gestational Age (SGA) - Our Experiences

Janchevska Aleksandra , Gucev Zoran , Tasevska-Rmush Liljana , Tasic Velibor

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) represent several types of malformations with occurrence of 1 in about 500 live births.Objective and hypotheses: Small for gestation age (SGA) may influence prevalence of CAKUT and progression of chronic kidney disease (CKD) in children. The aim of this study was to elaborate prevalence, clinical features and outcome of SGA born children with associated CAKUT....

hrp0082p3-d1-931 | Puberty and Neuroendocrinology | ESPE2014

X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy

Janchevska Aleksandra , Tasic Velibor , Krstevska-Konstantinova Marina , Cheong Hae Il

Background: Nephrogenic diabetes insipidus (NDI) is caused by inability of renal collecting duct cells to respond to arginine vassopresin (AVP)/antidiurethic hormone (ADH).Objective and hypotheses: The majority of patients (about 90%) have type 1, X-linked recessive form, of NDI caused by mutation in gene encoding the vassopresin V2 receptor. Type 2, autosomal NDI, have the rest 10% of patients. This type is caused by the aquaporin-2 water channel (AQP2)...

hrp0084p3-1051 | Growth | ESPE2015

A 4-Month-Old Boy with Beckwith Wiedemann Syndrome

Janchevska Aleksandra , Tasic Velibor , Gucev Zoran , Bachmann Nadine , Bergmann Carsten

Background: Beckwith Wiedemann syndrome (BWS) is an overgrowth disorder with vari-able phenotype (hemihypertrophy, macroglossia, visceromegaly, malformations, and hypo-glycaemia in 30–50%) and predisposition for tumors, during the second part of pregnancy and first few years of life.Objective and hypotheses: Molecular characterisation of a patient with BWS was perfor-med to ensure adequate clinical management. This analysis revealed the most common ...

hrp0097p1-379 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Hyperandrogenism in adolescents assigned female at birth during process of gender incongruence/ gender dysphoria diagnosis

Gawlik Aneta , Antosz Aleksandra , Chmiel-Aleksandrowicz Iga , Januszek-Trzciąkowska Aleksandra , Karbowska Dorota , Gawlik Jakub , Nowak Zuzanna , Jakubowski Tomasz

Introduction: Gender incongruence (GI) is a condition where a person's gender identity does not match their assigned sex at birth and can lead to significant distress and gender dysphoria (GD). Some studies have shown a higher prevalence of hyperandrogenism (HA) in transboys/transmen than among the cisgender female population and considered its meaning in the context the of gender identity development. Therefore, further studies confirming this observatio...

hrp0094p1-50 | Sex Endocrinology and Gonads A | ESPE2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

McGlacken-Byrne Sinead M , Torres Ignacio Del Valle , Stabej Polona Le Quesne , Belutti Laura , Ocaka Louise , Ishida Miho , Suntharalingham Jenifer P , Genomics UCL , Discovery GOSgene , Resource Human Developmental Biology , Dattani Mehul T , Kelberman Dan , Lagos Carlos F , Livera Gabriel , Conway Gerard S , Achermann John C ,

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...