ESPE Abstracts

Background: Kisspeptins, ligands of G protein-coupled receptor 54 (GPR54) encoded by the KiSS-1 gene, have recently emerged as key players of the gonadotropic axis. It was found that KiSS-1/GPR54 system plays an important role in the neuroendocrine control of gonadotropin secretion, brain sex differentiation, puberty onset and fertility. It is important to know if the kisspeptin serum level could be used as a diagnostic criterion to the stage of puberty or impairment of it in ...

Background: Recently kisspeptins are considered as a key gatekeepers of the regulation of the gonadotropic axis.Objective and hypotheses: To investigate the impact of experimentally induced hypogonadism on kisspeptins signaling in androgen-dependent tissues and blood.Method: Wistar male rats (29 in total) were used. Rats were divided into four groups. Group 1 (control, prepubertal rats aged 2 months, n=7). Group 2 (control...

Turner syndrome (TS) is characterized by partly or completely missing of an X chromosome and variability of clinical signs. We present tree Caucasian mosaic TS girls with unusual clinical course and discuss some literature.Case 1: A girl referred first to paediatric endocrinologist at the age of 8.5 y. for metabolic problems (an excessive weight gain, acanthosis nigricans, impaired glucose tolerance, hyperinsulinemia). The height was not a concern (Media...

Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified...

Background: Children with rare genetic disorders may have different endocrine problemsObjective and hypotheses: To present 4 paediatric patients (3 M, 1 F) aged 4.3 – 16.9 y.o. (mean age 11±5.5 years) with different genetic syndromes: Pallister-Hall, Holt-Oram, Ellis–van Creveld and Marshall.Method: Retrospective study.Results: Mean age of diagnosis was 5.3±2.7 y.o. All children had growth...

Objective: To characterise clinical presentation of congenital isolated ACTH deficiency.Methods and results: Clinical and anthropometric data were obtained. Biochemical liver function parameters, blood glucose, insulin, TSH, free thyroxin (FT4), GH, cortisol, and ACTH levels were analyzed. POMC and TBX19 genes were analysed by Sanger sequencing. The girl was born at full-term with normal weight and length. The parents are cousins. At birth cra...

Background: Mixed gonadal dysgenesis (MGD) is a DSD with variations of 45,X/46,XY caryotype and different phenotype.Objective and hypotheses: To describe the features of six patients (three raised as boys and three as girls).Method: The mean patients’ age at the time of the report is 11.7±4.0 years old. Molecular diagnosis was made in utero and confirmed after birth in two boys (for maternal age and because one mother had...

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Introduction: Wiedemann-Rautenstrauch syndrome (WRS). or neonatal progeroid syndrome, is an orphan hereditary disease associated predominantly with bi-allelic mutations in the POLR3A, POLR3B, and POLR3GL genes and characterized by congenital lipodystrophy, progeroid facial features, and premature aging. Unlike Hutchinson-Gilford progeria, the clinical features of the syndrome are evident at birth. The prevalence of the disease is unknown; 19 proven clinical ca...

Introduction: The PLIN1 gene encodes perilipin - a lipid droplet coat protein expressed in adipocytes where it inhibits basal and facilitates stimulated lipolysis. Mutations in PLIN1 have been described in several families with partial lipodystrophy, dyslipidemia and insulin resistance (partial lipodystrophy type 4, Familial, FPLD4). Herein we describe a novel heterozygous c.1210-1delG splicing variant in PLIN1 gene in three unrelate...