ESPE Abstracts

Abstract: Combined Pituitary Hormone Deficiency (CPHD) is characterized by growth hormone and at least one other pituitary hormone deficiency. It is of varying etiology, extent and severity and it usually occurs sporadically with only 10% of cases being familial. Although pathogenic variants in more than 30 genes expressed during the development of the head, hypothalamus and/or pituitary have been identified so far to cause genetic forms of CPHD, the aetiology...

Introduction: CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however the 85% of the cases remain with unknown aetiology. Whole Exome Sequencing (WES) enables parallel searching for pathogenic variants of CPHD in targeted known gene panels as well as the identifi...

Background: Children and adolescents who have a gender identity that does not correlate with their assigned gender (based upon genital anatomy and chromosomes) are described as Gender-Dysphoric/Gender-Incongruent Persons (GD/gender incongruence) based on the ICD-11 classification of the World Health Organization.Objective: The case of a young teenager with Gender Dysphoria Disorder.Case presentation: A boy, aged 13 and 4/12 years, ...

Background: Donohue syndrome is a rare congenital syndrome of insulin-resistance and abnormal glucose homeostasis, caused by mutations in the insulin receptor (INSR) gene. It is characterized by specific phenotypic and clinical features and the diagnosis is based on clinical, biochemical and genetic criteria.Case reports: We report two siblings with Donohue syndrome with typical dysmorphic features and multiple clinical and biochemical characteristics. G...

Introduction: Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause of CAH, 11β-hydroxylase deficiency (11βOHD), is attributed to pathogenic variants in the CYP11B1gene encoding for the enzyme 11β-hydroxylase (11βOH).Case presentation: A thirteen-year-old g...

Background: Van Wyk-Grumbach syndrome (VWGS) is a rare diagnosis that should be suspected in children with signs of peripheral precocious puberty and hypothyroidism. It is characterized by multicystic enlarged ovaries, in the presence of long-term severe hypothyroidism. Treatment of VWGS consists of hormonal replacement with levothyroxine. Usually, ovarian cysts and increased ovarian volume subside within an average of 2 months but can persist up to 12 months after treatment.<...

Background: Premature adrenarche (PA) is characterized by the appearance of pubic and axillary hair associated with an increase in adrenal androgen production, in the absence of central puberty, steroidogenic enzyme defects, or virilizing tumors, before the age of 8 years in girls and 9 years in boys. Studies have shown increased likelihood of PA for children with obesity and those born small for gestational age (SGA).Aim:</stron...

Introduction: The success of rhGH therapy is thought to be dependent on the patient's ability to maximally adhere to their treatment regimen.Aim: To compare the reported (subjective) compliance as it was documented via a questionnaire fulfilled by the parents and/or patients, with actual (objective) compliance as recorded by a delivery device, to rhGH therapy.Material and Methods</stron...

Objective: Type 2 Diabetes Mellitus(T2DM)and obesity represent two major health hazards in children and adolescents, with rising prevalence. Several markers have been developed in order to diagnose T2DM and detect potential metabolic abnormalities.The objective of the study was to examine glucose tolerance in Greek children and adolescents and the differences in the glucose, insulin and c-peptide response curves between male and female children and adolescents...

Introduction: A positive correlation between the onset of T1DM and winter has been suggested by studies conducted in different countries.Objective: To investigate the seasonal variation of T1DM diagnosis and additional epidemiological parameters in children from Western Greece diagnosed with T1DM.Methods: 105 patients, 44 males and 61 females, aged 1 to 16 years (mean: 8.2±4 y...