ESPE Abstracts

The syndrome of resistance to thyroid hormone (RTH) is caused by decreased tissue responsiveness to thyroid hormone. With the exception, inheritance of RTH is autosomal dominant. The receptors are encoded by two genes (THRA and THRB), each of which undergoes alternate splicing to generate receptor subtypes (TRa1, TRβ1, and TRβ2), with differing tissue distributions.Here we describe a child with novel heterozygous mutations for THRB. Nine-months-old ...

Introduction: Turner syndrome (TS) is caused by monosomy or structural abnormalities of the X chromosome, with a prevalence of out 1/2500 females live birth. Most important clinical features of TS are short stature and gonadal failure. Approximately one third of girls with TS may undergo spontaneous puberty. Here we report a case of a variant TS with breast development.Case report: A 9-year-old girl was referred to our paediatric endocrinology outpatient...

Objective: To investigate response to growth hormone (GH) treatment for idiopathic GH deficient (GHD) and family short stature (FSS) and Small for Gestational Age (SGA) patients or Combined group.Design: GHD, FSS, SGA and Combined group patients who were currently receiving GH and had completed treatment with treatment duration of more than 6 months (from 8/2019 to 5/2021) at International Vinmec Central Park hospital. M...

Background: Precocious puberty is defined by the development of secondary sexual characteristics before the age of 8 in girls and before the age of 9 in boys. if not diagnosed and treated at an early stage, precocious puberty can compromise final adult height and trigger psychological disturbances. Gonadotropin- releasing hormone analogs (GnRHa) contributes to achievement of target final height by reducing the acceleration of bone maturation.<p class="abst...

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

Background: The onset of puberty is a complex biological process involving numerous factors under the control of the neuroendocrine pathways that are regulated as part of the hypothalamus-pituitary-gonadal (HPG) axis. The key step in puberty onset is activation of gonadotropin releasing hormone (GnRH) pulses and secretion. Recent evidence suggests that the Lin28/let7 pathway might be a critical regulator of GnRH release and that it might play an important role...

Abstract Withdrawn...

Turner syndrome is the most common chromosomal disorder in girls. They present classically short stature and delayed puberty. Turner girls with 45,X karyotype show normal female external genitalia. But Turner patients containing 45,X/46,XY mosaicism, or Sex-determining Region Y(SRY) gene may have mixed gonadal dysgenesis with various external sexual differentiation or pure gonadal dysgenesis. Existence of Y chromosome particles in Turner syndrome implies that they have risk of...

Purpose: Reported changes in BMI in central precocious puberty (CPP) during and after gonadotropin-releasing hormone analog (GnRHa) treatment are inconsistent. We, therefore, investigated auxological parameters in GnRHa-treated girls with idiopathic CPP (ICPP) until attainment of near final height (NFH).Methods: From the medical records of 59 ICPP girls who attained NFH after GnRHa therapy, auxological changes were compared between overweight (BMI &#8805...

Objective: To evaluate the effect of Ziyin Xiehuo granules (ZYXH) and Zishen Qinggan granules (ZQ7G) on partial precocious puberty (PPP).Methods: The present study was a multicenter, randomized, single-blinded, positive-controlled trial. A total of 143 patients were assigned to either the ZYXH group or the ZQ7G group using a random number table. The ZYXH group received ZYXH three times daily for 6 months, while the ZQ7G group received ZQ7G three times da...