hrp0084p3-1166 | Puberty | ESPE2015

Functional MRI of a Female Teenager of Prada-Willi Syndrome Complicated with Mosaic Turner Syndrome

Wang Wei , Li Juan , Sun Ying , You Hui , Ma Chao , Song Hongmei , Zhao Weigang

Background: A patient with both Prader-Willi syndrome and mosaic Turner syndrome is extremely rare. We performed fMRI and euglycaemic-hyperinsulinaemic clamp test for her.Case presentation: A 17-yr-old girl was diagnosed as Prader-Willi syndrome by her clinical investigations including poor feeding in infancy, hyperphagia, developmental delay, mental disorders, behavior problems, thin upper lip, almond-shaped eyes, acromicria and genital hypoplasia. Mate...

hrp0094p2-207 | Fat, metabolism and obesity | ESPE2021

Restriction of physical activity is the main cause of childhood obesity during the COVID-19 pandemic – reflections from a study conducted in 3 clinical centers in southern Poland

Zachurzok Agnieszka , Wojcik Małgorzata , Gawlik Aneta , Starzyk Jerzy B. , Mazur Artur ,

Background: The aim of this study was to analyze the impact of the COVID-19 pandemic lockdown on behaviors and subsequent changes in BMI in children from southern Poland.Methods: The study included 206 participants (104 females and 102 males) with a complete analysis of 177 (96 females and 81 males) with a mean age of 12.8 ± 2.6 years admitted to three pediatric endocrinology clinics (Rzeszów, Kraków, and ...

hrp0095p1-564 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Adenohypophyseal Hyperfuction in Childeren and Adolescents with McCune-Albright Syndrome

Xie Liu-lu , Li Yan-hong , Ma Hua-mei , Du Min-lian

Background: McCune-Albright Syndrome(MAS)is a rare disease caused by somatic gain-of-function mutations of the GNAS gene, presenting with fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is reported uncommon but potentially severe complication of MAS.Method: A prospective study was performed to evaluate the prevalence of the pit...

hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

MA Hua-mei , LI Yan-hong , Chen Qiu-li , DU Min-lian

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP),rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

hrp0095p1-585 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Long Term Follow-up of A Boy Who Had Suprasella Tumor Recurrence 4 Years After the First Diagnosis of Extracranial GCTs

Shi Xian-jun , Li Yanh-hong , Ma Hua-mei , Du Min-lian

Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).Re...

hrp0095p1-394 | Thyroid | ESPE2022

Analysis on the influencing factors of neonatal serum FT3, FT4 and TSH

Zhang Cong , Zheng Rongxiu , Ma Shifeng , Wu Chushan , Liu Xiaoxiao , Cheng Siqi , Zhao Yue , Jiang Haiyan

Background: With the increasing survival rate of extremely premature infants, neonatal thyroid dysfunction is more frequently observed clinically. Despite the guidelines, the timing of screening for neonatal thyroid function remains controversial, especially for premature infants. At present, there is no unified standard for serum FT3, FT4 and TSH levels of newborns of different gestational ages and postnatal days.Objective:</str...

hrp0095p2-23 | Adrenals and HPA Axis | ESPE2022

Primary pigmented nodular adrenocortical disease in a young boy associated with a rare somatic mutation of the PRKACA: case report and literature review

Xu Yu-ying , Li Yan-hong , Chen Qiu-li , Ma Hua-mei , Zhang Jun , Guo Song

Introduction: Cushing's syndrome(CS) is rare in the pediatric population, and the cause vary with age. Primary pigmented nodular adrenocortical disease (PPNAD) is one of the causes of CS, though it is a rare disorder. It has been proposed that in children with CS, PPNAD should be suspected. Here we report a young boy with CS due to PPNAD associated with a somatic mutation of the PRKACA.Case Presentation: The child w...

hrp0095p1-516 | Growth and Syndromes | ESPE2022

Ovarian hilus cell hyperplasia: a rare cause of progressive virilization in a girl with Turner syndrome in the absence of Y chromosomal material

van der ZwanY.G. , Spath M.A. , van Setten P.A. , van der Velden J.

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...

hrp0092p1-150 | Thyroid | ESPE2019

Acquired Von Willebrand's Syndrome Caused by Primary Hypothyroidism in a 5-Year-Old Girl

Flot Claire , Edouard Thomas , Tauber Maïthé , Oliver Isabelle , Claeyssens Segolene , Savagner Frederique , Caron Philippe

Background: Acquired Von Willebrand's syndrome (aVWS) associated with hypothyroidism is rare in children and more often diagnosed during the peripubertal period in the context of Hashimoto's thyroiditis.Case presentation: A 5-year-old girl was referred to the paediatric haematology unit for rectal bleeding, anaemia, and prolonged activated partial thromboplastin time. Her developmental and learning skills were no...

hrp0092p2-81 | Diabetes and Insulin | ESPE2019

A de novo Pathogenic Heterozygous Mutation of the Insulin Receptor gene in a Patient with type A Insulin Resistance Syndrome

Sun Manqing , Wang Wei , Lu Wenli , Zhang Lidan , Dong Zhiya , Xiao Yuan , Ma Xiaoyu , Ni Jihong , Wang Defen

Background: Defects of the insulin receptor gene (INSR) can cause genetic syndromes associated with a wide diverse range of congenital insulin resistance from milder insulin-resistant diabetes mellitus (Type A insulin resistance syndrome, TAIRS) to leprechaunism (Donahue syndrome). Clinical features in TAIRS vary due to the severity of damage in INSR, precise diagnosis is challenging.Materials and Methods</stron...