ESPE Abstracts

Background: 5-α-reductase type 2 enzyme catalyzes the conversion of testosterone into dihydrotestosterone, a potent androgen responsible for male sexual development during the fetal period. From 2017 to 2019, a homozygous hg38_chr2:31529414 C>T variant in SRD5A2 gene have been identified in 3 unrelated patients with DSD 46,XY of Buryat origin. The variant has been previously reported in one patient from China (Song et al, 2019) and l...

Background: Fibrous dysplasia (FD) is rare disease that affects skeletal system characterized mostly by abnormal bone formation. The newly formed disorganized mass includes fibrous tissue with poorly organized immature trabeculae. FD is a highly incapacitating condition where fractures, deformities and consecutive functional impairment could occur as mono, olygo or polyostotic form. Aside from predominantly asymmetric skeletal involvement, extra-skeletal manif...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p class="ab...

Objectives: Diabetes mellitus (DM) as part of autoimmune dysregulation syndromes holds a unique place among DM monogenic forms. Early diagnosis of the disease is critical for pathogenetic therapy to be prescribed. We describe a clinical case of insulin-dependent DM in combination with severe autoimmune enteropathy in a young patient who had a novel compound heterozygous mutation in the LRBA gene.Methods: The patient unde...

Keywords: pediatric obesity, metabolic syndrome, dyslipidemia, abdominal obesity, cardiovascular risk.Introduction: The prevalence of pediatric obesity is rising globally as well as in Romania and so are the complications of obesity. Dyslipidemia is one of the most frequent complications and is associated with cardiovascular risk even in children or teenagers. Evaluating the degree of obesity and the correlations between...

Background: Growth hormone deficiency (GHD) is a disorder affecting children's linear growth and leading to short stature without initiation of treatment with growth hormone (GH). Administration of GH has been shown to be safe and effective to increase children's final height in GHD. It is important to start the treatment as early as the GHD is diagnosed. The objective of the current study is to evaluate the growth velocity and height standard deviat...

Introduction: Kabuki Syndrome (KS) is a rare genetic disorder characterised by dysmorphic facies, poor developmental growth, hypotonia, skeletal abnormalities, intellectual disability, as well as systemic malformations. The pathogenic or likely pathogenic variants of the KMT2D or KDM6A genes are responsible for about 70% of the cases, while the rest are diagnosed based on clinical features consistent with KS. This paper reviews the clinical features, genetic t...

Hypogonadism is represented by a hypo- and hypergonadotropic variant. Antymüllerian hormone (AMH) and inhibin B are used to assess ovarian reserve, but in pediatric practice their role has not been studied. The main interest is to conduct the study of ovarian reserve in hypogonadism among girls.Objective of the Research: To compare the content of inhibin B, AMH and estradiol in girls with hyper- and hypogonadotropic hypogonadism...

Background: TransCon hGH is a sustained-release prodrug in development as a long-acting GH for children with growth hormone deficiency (GHD). TransCon hGH consists of a parent drug, growth hormone (hGH; somatropin), that is transiently bound to a carrier via a TransCon linker. The carrier extends hGH circulation time in the body and fully active hGH is released over one week at physiologic pH and temperature. Unlike other molecules in development, TransCon hGH...

Purpose: Multiple Endocrine Neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refer to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017.Methods and Patients: Forty patients underwent RET testing by Sanger sequencing of exons 10–11 and 13–16. Genotyping with STR genetic markers ...