ESPE Abstracts

Objective: Clinical Observation of fifty-two patients with 5-alpha-reductase deficiency (5 - alpha-reductasedeficiency, 5α-RD) with oral testosterone undecanoate. To evaluate the efficacy and drug safety, find the optimum age of medication.Methods: Prospective self-controlled comparison methods were used to analyze the clinical data and follow-up results in sixty-nine patients who are diagnosed with 5-alpha-reductas...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Objective: To report a case girl with 45X/47XXX mosaic Turner syndrome exhibiting a progressive puberty.Design: Case reportResult: A 9 years 4 months old girl was presented with growth retardation. Chromosome analysis revealed a mosaic karyotype 45X/47XXX. She presented with normal height but much lower than the mid-parental height. During annual check-ups, her growth rate was acce...

Context: We investigate the efficacy and safetyof non-inferiority clinical trial for human chorionic gonadotropin/ human menopaousal gonadotropin (HCG/HMG) versus pulsatile gonadotropin-releasing hormone (GnRH) which have not been evaluated in puberty boys with CHH.Objective: To compare the efficacy and security of two different treatments in male adolescent patient with congenital hypogonadotropic hypogonadism (CHH).Methods: For t...

Background: Data on the effect of cryptorchidism on hormones of androgen insensitivity syndrome (AIS) and 5alpha-reductase type 2 deficiency (5α-RD2) are still limited.Methods: We retrospectively evaluated 47 patients with AIS and 79 with 5α-RD2 to investigate the effect of cryptorchidism on hormone levels.Results: Anti-Müllerian hormone (AMH) levels in the AIS gro...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic rats may present increments of blood serum...

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

Background: Mannose binding lectin (MBL) is an important innate immune molecule and is previously found to be related to artery damage in some diseases as SLE rheumatoid arthritis and severe atherosclerosis. However, its role in artery change is still contradictory according to different studies. We found the carotid intima–media thickness (CIMT) increased in obese children which indicated an early change of atherosclerosis.Objective and hypotheses:...

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...