ESPE Abstracts

Objective: Mixed gonadal dysgenesis (MGD) (45,X,46,XY mosaicism) is a rare chromosomal disorders of sexual development (DSD). In this article, single center data were evaluated.Material Method: From the files of ten patients followed up with the diagnosis of mixed gonadal dysgenesis, complaints and physical examination findings, laboratory tests, chromosome analysis, FISH results, ultrasound, laparoscopy, pathology repor...

Background: Cardiovascular complications are the leading cause of mortality and morbidity in patients with type 1 diabetes (T1D), and early assessment is crucial. Our study aimed to determine the impact of diabetes on vascular health by monitoring 24-hour ambulatory blood pressure (ABPM) and measuring arterial stiffness (AS) in children with T1D.Methods: Seventy-four consecutive children with T1D and 68 age and sex-match...

Aim: We present a case with clinical manifestations of HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome resulting from a missense variant in the GATA3 gene, which is not yet reported in the patients defined in the literature to our knowledge.Case presentation: A 13-year-old male patient, presented to the emergency department with a suspected seizure history. He reportedly woke up du...

Aim: In numerous studies, a decrease in sleep quality and regulation has been reported in patients with type 1 diabetes (T1D). However, research on sleep disturbances in T1D patients is limited. Diagnosis of sleep disorders is crucial as this condition adversely affects cognitive functions in children, which in turn affects the essential skills required for diabetes management. We aim to assess sleep disorders in patients diagnosed with T1D and investigate the...

Background: Gonadotropin independent precocious puberty (GIPP) is caused by a heterogenous group of disorders. With the exception of congenital adrenal hyperplasia (CAH), disorders causing GIPP are uncommon, and there are no studies evaluating the etiologic distribution of GIPP in a large cohort.Objective and hypotheses: To find out the relative frequencies of each etiological group in patients with non-CAH GIPP and also to evaluate the clinical and labo...

Introduction: Short stature is a common manifestation of Noonan syndrome (NS). GH deficiency, GH insensitivity, and neurosecretory dysfunction have been reported in the literature. The optimal GH treatment for NS is still controversial. In this study, we aimed to evaluate the growth characteristics in addition to clinical features of NS, and the growth response to GH treatment by using a nationwide registration system.Material and methods: Children and a...

Background: Menarche is the endpoint of a complex sequence of maturational events but is the unique marker of female puberty. Timing of menarche is a strongly heritable trait. However, secular trends suggest that lifestyle and/or environmental factors are important.Objective: To assess the trend in age at menarche (AAM) in Istanbul over the last 12 years, and compare the patterns according to socioeconomic status (SES), ...

Introduction: Ceratonia siliqua L. (CS) is from the legumes (Fabaceae) family, and different forms such as carob extract and flour are preferred by parents because it is a natural sweetener and a source of vegetable carbohydrates. CS is rich in polyphenols and flavonoids. When we questioned histories of the cases of early puberty and puberty variants who applied to our clinic, we noticed long-term and regular use in some cases. We planned to experimen...

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...

Introduction: Thyroid cancers are rare cancers in children and their incidence is 1.4% in pediatric malignancies. However, its frequency is increasing. While the incidence of prepubertal children is equal among girls boys, it increases with age in female patients. Radiotherapy, which is applied to the neck region, and hashimoto disease are the risk factors. The relationship between Hashimoto's disease and papillary thyroid cancer is thought to be assoc...