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 ...

hrp0089p2-p221 | GH &amp; 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...

hrp0084p2-303 | DSD | ESPE2015

Multiple Malformations Extending the Phenotypic Spectrum of Antley–Bixler Syndrome in a Patient with P450 Oxidoreductase Deficiency due to Two Novel Mutations of the POR Gene

Janchevska Aleksandra , Idkowiak Jan , Caredda Elisabeta , Hurst Jane , Dattani Mehul T , Arlt Wiebke , Spoudeas Helen A

Background: P450 oxidoreductase deficiency (PORD) is characterised by glucocorticoid and sex steroid deficiency and skeletal malformations, resembling Antley–Bixler syndrome (ABS, MIM 124015), a skeletal malformaton phenotype also present in patients with fibroblast growth factor receptor 2 mutations (FGFR2, MIM 176943). While genetic testing confirms both conditions, establishing the exact diagnosis on clinical grounds can be challenging.Objective ...

hrp0095p1-167 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

A PROP1 Compound Heterozygosity with Pituitary Enlargement

Gucev Zoran , Janchevska Aleksandra , Beqiri-Jashari Ardiana , Plasevska-Karanfilska Dijana , Trpkovska Jovana , Noveski Predrag

A PROP1 homozygous mutation was found in an 8 years old boy who was referred for fatigue, general slowness, dry skin, normal weight and slow growth. His T4 and TSH were low, while tests of pituitary reserve were normal as well as the concentrations of ACTH and cortisol. FSH/LH/T/E were in the pre-pubertal range. TRH test resulted in no increased TSH and T4, confirming the pituitary origin of the defect. MRI of the pituitary hypothalamic region revealed an enlargement of the an...

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...