ESPE Abstracts

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Introduction: Adrenarche refers to the increase in adrenal androgen synthesis. However, process of adrenal androgen production in early childhood remains to be elucidated. The aim of this study was to evaluate changes in adrenal androgen levels and steroidogenic enzyme activities associated with adrenarche using a prospective cohort.Methods: A total of 229 children (124 boys, 52.4%), who had participated in the Envir...

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by incomplete or absent puberty caused by the lack or deficient number of hypothalamic GnRH neurons, disturbed secretion or action of GnRH, or both. The association of CHH and a defective sense of smell (anosmia or hyposmia) found in approximately half of the CHH patients is termed Kallmann syndrome (KS). CHH is clinically and genetically heterogeneous, and >25 different causal genes have been ...

Background: Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 years in girls or 9 years in boys. Mutations in the maternally imprinted MKNR3 gene are the most common identified genetic cause of ICPP to date. Expression of MKRN3 in the arcuate nucleus is presumed to be inhibitory to GnRH secretion, but the exact mechanism remains un...

Background: Mutations in the X-chromosomal androgen receptor (AR) gene, rendering the AR protein completely or partially inactive, cause complete or partial (PAIS) androgen insensitivity syndrome.Case report: The proband was born at term following uneventful pregnancy. His phallus length was 28 mm, he had palpable gonads in the lower portion of the inguinal canal, and he had a severe penoscrotal hypospadia. His karyotype was 46,XY, and molecular...

X-linked dominant hypophosphatemic rickets (XLH) are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The woman has a history of multiple surgical treatments because of lower limb deformities. Through additional quest...

Background: Overweight as a predictor of adverse cardiovascular outcome is of particular interest in gender-affirming healthcare. Transgender populations are at a higher risk for obesity, possibly due to a combination of minority stress, psychiatric comorbidity, and lifestyle differences, such as reluctance to participate in group sports as a consequence of social withdrawal. However, robust auxological data in transgender adolescents is scarce.<p class="a...

Background: Delayed puberty (DP) is generally considered a benign condition. We investigated the diagnoses underlying DP and its outcome predictors.Objective: A retrospective chart review which included clinical and biochemical data of 174 boys and 70 girls evaluated for DP in a single tertiary care center between 2004 and 2014.Results: Thirty etiologies that underlie DP were identified. No markers of clinical value could be identi...