ESPE Abstracts

Background: Vitamin D dependent rickets type 1A (VDDR1A) is a rare disease caused by CYP27B1 mutations which encodes vitamin D 1α-hydoxylase.Objective and hypotheses: Vitamin D dependent rickets type 1A features of three Chinese cases with CYP27B1 mutations and report the experience of medication for severe hypocalcaemia.Method: Summarise their clinical features analyse the CYP27B1 and vitamin D receptor (VDDR) mutations.<...

Background: Thyroid carcinoma is the most common endocrine malignancy and most common secondary malignancy for childhood cancer survivors. Radiation exposure has been clearly linked to risk. Thyroid nodules in children have a high risk for malignancy, whether arising spontaneously or after radiation. Reported incidence of thyroid carcinoma after radiation is 20 times the population risk, partly due to improved long-term childhood cancer survival and more active surveillance. D...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone (GnRH), which is the master hormone regulating the reproductive axis. CHH can be divided into Kallmann syndrome (KS) with dysosmia and normosmic Congenital hypogonadotropic hypogonadism (nCHH) according to the presence or absence of an olfactory disorder.Methods:</...

Background: Accumulated evidence indicates that the GH-IGF-1 pathway might be one of the crucial mechanisms of ISS. Insulin-like growth factor-1 receptor (IGF-1R) is the effector molecule that regulates the cascade reaction of hormone receptors in the GH–IGF-1 axis.Objective and hypotheses: To investigate the role of IGF-1R gene polymorphisms with regard to susceptibility to Idiopathic short stature risk in the Chinese population of Jiangxi area.</p...

Objective and hypotheses: To evaluate the long-term efficacy of triptorelin 3.75 mg subcutaneously injection every 6 weeks on final height in girls with ICPP.Method: Forty females with ICPP received triptorelin 3.75 mg every 6 weeks subcutaneously injection and reached FAH were collected. These patients were divided into two groups. Group A: GnRHa alone, n=17; group B: triptorelin+rhGH, n=23. During the treatment, height, weight, annual...

Purpose: Adrenal neoplasms (ANs) are rare endocrine neoplasms in children, and etiopathogenesis and prognosis of pediatric ANs remain obscure. This study investigated clinical features, histopathological features, genetic etiologies and prognosis of ANs.Methods: This study included 33 ANs patients diagnosed from March 1997 to April 2021. Clinical features and endocrine findings were collected by retrospective medical cha...

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action and a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. FGFR1 mutations have been identified in about 3–10&#3...

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...