hrp0084ha1 | Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration | ESPE2015

Mutations in IGSF10 cause Self-limited Delayed Puberty, via Effects on GnRH Neuronal Migration

Howard Sasha , Guasti Leonardo , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Sternberg Michael , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Andre Valentina , Gothilf Yoav , Cariboni Anna , Dunkel Leo

Background: Timing of puberty is associated with height, cardiovascular health and cancer risk, with a significant public health impact. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. Self-limited delayed puberty (DP) often segregates in an autosomal dominant pattern, but the underlying genetic background is unknown.Methods: We performed whole exome sequencing in 52 members of 7 families...

hrp0097fc8.3 | Fat, metabolism and obesity 2 | ESPE2023

Impact of growth hormone therapy on body mass index in childhood-onset craniopharyngioma: a multicenter Italian study in 117 patients.

Ciacchini Benedetta , Zucchini Stefano , Pozzobon Gabriella , Pedicelli Stefania , Parpagnoli Maria , Driul Daniela , Matarazzo Patrizia , Baronio Federico , Panciroli Marta , Partenope Cristina , Nardini Beatrice , Ubertini Graziamaria , Menardi Rachele , Guzzetti Chiara , Iughetti Lorenzo , Aversa Tommaso , Di Mase Raffaella , Cassio Alessandra , Di Iorgi Natascia

Background: patients with childhood-onset craniopharyngioma (CO-CP) present long-term outcomes, including growth hormone (GH) deficiency and obesity. Currently, data on the effects of GH therapy (GHT) on the body mass index (BMI) in CP are inconclusive. Aims of the study were to evaluate BMI over time and its determinants in a large cohort of CO-CP patients treated with GH therapy (GHT).Methods: a multicenter retrospecti...

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 ...

hrp0086p2-p586 | Perinatal Endocrinology P2 | ESPE2016

Hyperthyrotropinemia of the Preterm Newborn: Treat or Not to Treat?

Ossola Serena , Diana Manuela , Cardani Roberta , Agosti Massimo , Salvatoni Alessandro

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

hrp0086p2-p759 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Case of Central Precocious Puberty in a Patient with Prader-Willi Syndrome

Pellegrin Maria Chiara , Tornese Gianluca , Faleschini Elena , Ventura Alessandro

Background: Hypogonadism is one of the major diagnostic criteria of Prader-Willi syndrome (PWS). A hypogonadotropic hypogonadism is often present as a result of hypothalamic dysfunction (together with other hormonal disorders, such as growth hormone deficiency and hypothyroidism).Presentation: A 8.5-year-old boy with genetically-confirmed PWS (maternal uniparental disomy) presented in our Endocrinology Unit for routinely follow-up. Therapy with rhGH was ...

hrp0082p2-d1-284 | Bone | ESPE2014

Increased Fracture Rate in Children and Adolescents with Marfan Syndrome

Trifiro Giuliana , Marelli Susan , Mora Stefano , Pini Alessandro

Background: Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue. Cardinal features affect cardiovascular system, eyes and skeleton. It is caused by mutations of FBN1 gene, which encodes the extracellular matrix protein fibrillin 1. The improper activation of TGFβ, due to defective fibrillin-1, is the pathophysiological mechanism. The altered modulation leads to overgrowth of long bones (disproportionate stature) and altered bone morphology.<p ...