ESPE Abstracts

Aim: Homozygous mutations in the HAX1 gene have been described in autosomal recessive severe congenital neutropenia (CN). In this rare disease, ovarian failure has been reported only in 9 female patients in the literature. There is insufficient data on childhood patients with HAX1 deficiency and the age of onset of ovarian failure is unknown. The aim of this cross-sectional study was to evaluate the gonadal functions and pubertal development in paedia...

Background: Silent corticotroph adenomas are adenomas composed of corticotrophs but are different from corticotroph adenomas. Despite being silent, they show more aggressive behavior than other clinically nonfunctional adenomas. Adrenocortical choristomas in silent corticotroph adenomas (i.e. the presence of adrenocortical cells in the heterotopic location of the sella) were reported in three patients 16 years or older until now.Objective: Here we report...

Introduction: The most common congenital malformations of the scrotum are bifid scrotum, penoscrotal transposition, and ectopic scrotum. Scrotal agenesis is a very rare congenital anomaly characterized by the absence of scrotal rugae in the perineal tissue between the penis and anus. To date, 9 cases with complete scrotal agenesis have been described in the literature. Here, a case with complete scrotal agenesis with MAB21L1 homozygous mutation is presented to...

Background: To the best of our knowledge, no study has been conducted to assess the impact of 21 hydroxylase deficiency and hidrocortisone treatment on electrocardiographic measures in children with 21-hydroxylase-deficient congenital adrenal hyperplasia.Objective and hypotheses: The purpose of this study is to compare the12-lead electrocardiographic measures such as PWd, QT interval, QTd, Tp-e interval, Tp-e/QT and Tp-e/QTc ratio in patients of 21-hydro...

Aim: This study aims to evaluate the comparative effects of the Minimed 780G system initiated at the time of diagnosis and subcutaneous insulin therapy with continuous glucose monitoring (CGM) systems also initiated at the time of diagnosis on metabolic control and CGM metrics.Methods: We enrolled 8 participants who started using the Minimed780G and 7 participants who started using continuous glucose monitoring (CGM) + m...

Introduction: Family history is observed in approximately 10% of the cases with type 1 diabetes mellitus (T1DM). The most important gene that determines susceptibility is the human leukocyte antigen complex (HLA) on chromosome 6. In HLA genes; specific combinations of alleles at DR3, DR4, DRB1, DQA1 and DQB1 locus either predispose or protective for T1DM. In this study, we aimed to investigate the molecular genetic etiology by whole exome sequence (WES) analys...

Introduction: Crooke’s cell adenoma (CCA) is an aggressive subtype of corticotroph adenoma, it is usually large, frequently invades surrounding tissues, and is resistant to both surgery and radiotherapy.Case Report: A 13-year-old girl, admitted with weight gain for more than 3 months. Her height was 147.5 cm (-1.5 SDS), weight 58.5 kg (1.1 SDS), BMI 26.89 kg/m2 (2 SDS) and blood pressure was 100/78mmHg. Her i physical exa...

Background: The etiology of infantile colic is unknown. Its timing overlaps with that of minipuberty. To the best of our knowledge, the relationship between these entities has not been investigated. In this study, we aimed to assess the relationship between minipuberty and infantile colic by measuring the levels of sex steroids in saliva among infants with and without infantile colic.Methods: Saliva samples were collecte...

Aim: Physical damage to hypothalamus, can lead to autonomic dysregulation, temperature imbalance, increased appetite, and obesity. We aim ed to determine the risk factors for the development of hypothalamic obesity.Methods: The cases were evaluated based on location, size of the mass, treatment modality (surgery or radiotherapy), pathology result, presence of hydrocephalus, family history of consanguinity and obesity, co...

Background: Predicted adult height (PAH) can be calculated using methods such as Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and BoneXpert based on bone age (BA) assessment. Since these methods were developed for healthy children, conflicting results have been reported regarding their effectiveness in different patient groups.Objective: This study aim ed to determine the most accurate method for PAH by comparing the...