hrp0097p2-37 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

A male case of peripheral precocious puberty caused by testotoxicosis

Coco Roberto , Pepe Giorgia , Li Pomi Alessandra , Corica Domenico , Lugarà Cecilia , Valenzise Mariella , Wasniewska Malgorzata , Aversa Tommaso

Introduction: Familial male-limited precocious puberty (or testotoxicosis) is a very rare genetic disorder with autosomal dominant transmission that causes gonadotropin-independent precocious puberty due to mutations activating the lutropin-chorionic gonadotropin receptor (LHCGR), which lead to elevated testosterone levels and suppressed gonadotropins. The age of onset is between 2-5 years essentially with penis and testes enlargement, linear growth accelerati...

hrp0098p1-1 | Adrenals and HPA Axis 1 | ESPE2024

Growth-promoting effect of adjuvant treatment in classic CAH 21OHD with impaired growth potential

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Zheng Rujiang

Objective: To explore the long-term effect of adjuvant treatment vin classic CAH 21OHD.Methods: Clinical datas of 21OHD children with impaired growth potential (HtSDSBA<-2) from the endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. Patients with adjuvant treatment were divided into different groups according to bone age (BA) an...

hrp0098p2-1 | Adrenals and HPA Axis | ESPE2024

Compromised linear growth and Final adult height in children with classic CAH 21OHD

Huang Mengtian , Ma Huamei , Du Minlian , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Zheng Rujiang , Wang Bing

Objective: To summarize the prevalence of compromised linear growth in 21OHD and its final adult height (FAH).Methods: Clinical data of children with CAH 21OHD from pediatric endocrinology clinics at the First Affiliated Hospital of Sun Yat-Sen University from January 1990 to February 2023 were included. The prevalence and types of compromised linear growth in 21OHD and related factors were discussed. FAH and its related...

hrp0098p3-260 | Thyroid | ESPE2024

Evolution of subclinical hypothyroidism in infancy: a single-center longitudinal retrospective cohort study

Franchina Francesca , Lugarà Cecilia , Coco Roberto , Pepe Giorgia , Anna Morabito Letteria , Li Pomi Alessandra , Corica Domenico , Wasniewska Malgorzata , Aversa Tommaso

Background: Management of subclinical hypothyroidism (SH) in infancy is still controversial. According to the European Guidelines for Congenital Hypothyroidism (CH), in case of TSH levels between 6 and 20 µUI/ml, both levothyroxine (L-T4) therapy and a wait-and-see approach can be considered.Aim: to describe the evolution of SH diagnosed in newborns recalled by neonatal screening (TSH values ≥7µUI/ml)....

hrp0095fc1.3 | Thyroid | ESPE2022

Meta-analysis of DNA methylation datasets identifies aberrant DNA methylation of thyroid function and development genes in Down syndrome

Lauffer Peter , Zwaveling-Soonawala Nitash , Li Shaobo , Bacalini Maria , Naumova Oxana , Wiemels Joseph , Boelen Anita , Henneman Peter , de Smith Adam , van Trotsenburg Paul

Down syndrome (DS) is characterized by a higher incidence of congenital hypothyroidism (CH) and a high prevalence of subclinical hypothyroidism (SH) early in life. Children and adults with DS have an increased risk of developing autoimmune thyroid disease, however CH and early SH cannot be explained by thyroid autoimmunity. The etiology of CH and early SH in DS remains to be elucidated. Considering the recently discovered genome-wide transcriptional and epigenetic alterations ...

hrp0095p2-191 | Growth and Syndromes | ESPE2022

A case report of gonadal Y-chromosome mosaicism 45, X Turner syndrome complicated by HCG-secreting gonadoblastoma

Zheng Rujiang , Ma Huamei , Liu Juncheng , Chen Huadong , Liang Jianbo , Chen Hongshan , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Objective: We report a case of a 5y3m patient who complained of breast development with "45, X Turner syndrome (TS) and HCG-secreting gonadoblastoma (Gb)" with Y chromosome mosaicism. Aim to understand the diagnosis of TS and improve the diagnosis and treatment of HCG-secreting tumors.Methods: The data of clinical diagnosis and treatment of this patient were summarized, and the literatures were reviewed.<p ...

hrp0092rfc6.3 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Increased Burden of Common Risk Alleles in Children with a Significant Fracture History

Manousaki Despoina , Kämpe Anders , Forgetta Vince , Makitie Riikka , Bardai Ghalib , Belisle Alexandre , Li Rui , Makitie Outi , Rauch Frank , Richards Brent

Background: Fractures are common in children, but a significant fracture history, defined as low-trauma vertebral fractures or multiple long bone fractures, is rare. Children with such history and no osteogenesis imperfecta (OI) are often presumed to have another Mendelian disease. However, in adults, multiple common risk alleles of small effect influence risk of fracture. We tested if subjects with a significant childhood fracture history have an increased bu...

hrp0092p1-44 | Fat, Metabolism and Obesity | ESPE2019

Metabolic Complications After Paediatric Liver Transplantation: A 10-year Longitudinal Study in a South-East Asian Population

Beng Hui Ng Nicholas , Yijuan Lim Yvonne , Wei Li Ho Cindy , Anjian Sng Andrew , Aw Marion , Seng Lee Yung , Yin Loke Kah

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

hrp0086fc6.2 | Syndromes: Mechanisms and Management | ESPE2016

Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly

Li Dong , Wenger Tara , Seiler Christoph , March Michael , Tian Lifeng , Kao Charlly , Pandey Rahul , Nguyen Kenny , Chiavacci Rosetta , Sleiman Patrick , Itkin Maxim , Dori Yoav , Hakonarson Hakon

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

hrp0082p1-d3-90 | Diabetes (2) | ESPE2014

The Relationship of Serum 25-Hydroxyvitamin D with Glucose Homeostasis in Obese Children and Adolescents in Zhejiang, China

Jiang You-Jun , Huang Ke , Fu Jun-Fen , Liang Jian-Feng , Zhu Hong , Zhu Zhi-Wei , Hu Li-Fei , Dong Guan-Pin , Chen Xue-Feng

Background: Evidence of the association between vitamin D, insulin resistance and oral disposition index (oDI) in obese children and adolescents is limited.Objective and hypotheses: We investigated serum 25(OH)D levels in obese children and adolescents in Zhejiang, China, and determined the relationship between serum 25(OH)D and glucose metabolism.Method: A cross-sectional design was used. All together 348 obese and 445 non-obese c...