ESPE Abstracts

Background: We presented 20-year follow-up of two patients with 11β- hydroxylase deficiency, one of them has novel mutation.Case 1: The male patient was diagnosed at the age of 9-months. He presented with penil growth and pubic hair. At diagnosis blood pressure was normal, his hormonal profile was distinctive of 11β-OHD, with elevated serum levels of 11-deoxycortisol (DOC 134 ng/ml, N: 0–1.18). Hydrocortisone was introduced immediately aft...

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...

Background: Early menarche may be associated with diabetes, metabolic syndrome, cardiovascular disease and oligomenorrhoea in adults. While the state of metabolism and gonadal axis of early menarche girls and girls who treated with Gonadotropin-releasing hormone analogues (GnRHa) during puberty was not so clear.Objective and hypotheses: We assessed in a retrospective unicentre study the state of metabolism and gonadal axis of early menarche girls and gir...

Background: Tall stature may be associated with psychological distress in some girls, and height reduction by oestrogen therapy has been described, but remains controversial. Possible side effects of ethinyl oestradiol therapy need to be balanced against a possible beneficial effect on adult height. In our centre natural 17-β oestradiol, which has a better safety profile, is used to reduce final height.Objective and hypotheses: To evaluate the pheno...

Background: Congenital pituitary hormone deficiency is etiologically heterogeneous and occurs in 1:4000 live births. Of those, isolated GH deficiency (IGHD) is the most common, followed by combined pituitary hormone deficiency with or without extrapituitary anomalies.Objective and hypotheses: Description of a patient with IGHD, associated with multiple additional organ anomalies.Method: Case report, Sequencing of HESX1, SOX2</e...

Background and Objectives: Pseudohypoaldosteronism (PHA) is a rare condition characterized by hyponatremia, hyperkalemia, metabolic acidosis and high plasma aldosterone level. Pseudohypoaldosteronism secondary to gastrointestinal losses is rare in the pediatric population. We present a case with secondary pseudohypoaldosteronism due to excessive gastrointestinal losses through ileostomy.Methods: A 1.5 year-old-male child...

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

Introduction: Noonan syndrome (NS) is relatively common genetic disorder caused by mutations in the PTPN11 (50%), SOS1 (10-13%), and RAF1 (3-17%) genes responsible for disturbances in the activation of the RAS/MAPK signaling pathway. NS is characterized by facial dysmorphic features (90%), congenital cardiac disturbances and short stature (<3c) - the average final adult height is 162.5 cm for male and 153 cm for female. In some, but not all of the NS patien...

Purpose: The 3-month gonadotropin-releasing hormone analogs (GnRHa) are expected to achieve better compliance in central precocious puberty (CPP) patients, but the 1-month depot remains the dominant choice for conventional treatment worldwide. Our study aimed to investigate the long-term efficacy of 3-month GnRHa for the treatment of CPP.Methods: In this retrospective study, 69 Korean girls diagnosed with CPP were includ...