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...

hrp0089p3-p396 | Thyroid P3 | ESPE2018

Myastenia Gravis in a Girl with Hashimoto Thyroiditis

Gucev Zoran , Alili Laerta , Laban Nevenka , Tasic Velibor

Objective: To describe an association of Hashimoto’s thyroiditis and myasthenia gravis in a 16 years old girl.Patient Report and Methods: A 18-year old girl with persistent hypothyroidism secondary to Hashimoto’s thyroiditis and a family history of Hashimoto’s thyroiditis (grandmother), diagnosed in 2005 and confirmed by elevation of thyroid stimulating hormone (TSH), low levels of T3, T4 and fT4 levels. The US of the thyroid gland reveale...

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-d1-661 | Bone | ESPE2014

No Gene Alterations in 11 Genes Associated with Isolated Hypoparathyroidism

Gucev Zoran , Sabolic Vesna , Tasic Velibor , Mitsui Toshikatsu , Hasegawa Toshikatsu

Background: Idiopathic isolated hypoparathyroidism is rare in children. Most often aetiology is autoimmune or genetic.Objective and hypotheses: To sequence eleven genes (AIRE, CASR, GATA3, GCM2, PCLN1, PTH, TBCE, TRPM6, GNAS, PRKAR1A, PDE4D) associated with hypoparathyroidism in a child with isolated hypoparathyroidism (IHPT) in order to find a specific gene alteration in IHPT.Method: We systematically sequenced the 11 gen...

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 ...

hrp0095p2-227 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Growth Hormone Deficiency in A Boy with Duplication 5q35.2q35.3

Janchevska Aleksandra , Plasheska-Karanfilska Dijana , Jordanova Olivera , Beqiri-Jashari Ardiana , Tasic Velibor , Gucev Zoran

Introduction: The genomic disorders caused by rearrangements in region 5q35, including the NSD1 (nuclear receptor SET domain containing protein-1) gene have various phenotypes depending on presence of deletions, duplications or inversions. Patients carrying microduplication have microcephaly, short stature, and mild to moderate intellectual delay or learning disability.Patients and methods: A six-year-old boy wa...

hrp0089p2-p221 | GH & IGFs P2 | ESPE2018

Growth Hormone Treatment in Children Born Small for Gestational Age (SGA)

Janchevska Aleksandra , Krstevska-Konstantinova Marina , Jordanova Olivera , Tasevska-Rmush Liljana , Tasic Velibor , Gucev Zoran

Introduction: Growth failure is a common consequence in small for gestational age (SGA) children.Patients and methods: The growth patterns and serum insulin like growth factor 1 (IGF1) concentrations before and after the 1st year under GH treatment of 32 short stature SGA born children have been evaluated. In addition, we investigated the insulin like growth factor 1 receptor (IGF1R) exon 2 as a hotspot for IGF1R genetic alterations. It is of note that n...

hrp0086p2-p677 | Growth P2 | ESPE2016

LHX-4 Gene Mutation in a Boy with Hypopituitarism and Severe Congenital Myopathy

Gucev Zoran , Tasic Velibor , Plasevska-Karanfilska Dijana , Stamatova Ana , Laban Nevenka , Polenakovic Momir

Background: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD.Objective and hypotheses: We describe a 14 years old boy who was referred for investigation of short stature.Methods and Results: Short stature, convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8....

hrp0084p3-921 | GH & IGF | ESPE2015

Severe Isolated Growth Hormone Deficiency and Myopathy in Two Brothers with RNPC3 Mutation

Gucev Zoran , Polenakovic Momir , Tasic Velibor , LeBouc Yves , Klammt Jurgen , Pfaeffle Roland , Filipovska Aleksandra

Background: We present two brothers with very distinct phenotype, possibly constituting a novel clinical and genetic entity. The common phenotype included red hair, obesity, myopathy, severe IGHD and, growth without growth hormone.Case presentation: At the age of 28 months the older brother had a height of 68 cm (−9 SD), his bone age was 6 months. The younger brother had a height of 62 cm at the age of 20 months (−5 SD), bone age 10 months. T...