ESPE Abstracts

Background: Gonadal function is altered up to 25% in patients who suffered cancer in childhood. Cryopreservation of ovarian tissue (COT) is an option for preserving fertility.Aims and objective: To establish the prevalence of primary hypogonadism (PH) in children with cancer after hematopoietic cell transplantation (HCT). To analyse the variables that predict progression to PH.Methods: Retrospective cohort study. Patients aged 0 to...

Background: Pituitary gigantism is a rare disorder. Paediatric endocrinologists may see at most one or two patients during their careers. In one large series of 2367 children and adolescents with pituitary adenomas, only 15 (0.6%) had pituitary gigantism. Much of our understanding is derived from isolated case reports and extrapolation from the adult literature. No sex predilection is known. Gigantism may occur at any age, and has been observed as early as the first 6–9 m...

Background: Risperidone is a second-generation antipsychotic medication, which inhibits dopamine and serotonin receptors. Around half of children and adolescents treated with risperidone develop hyperprolactinemia. Chronic hyperprolactinemia can lead to osteoporosis, cardiovascular disease and delayed growth and puberty. There is no available guidance on management of antipsychotic induced hyperprolactinemia in children. We describe the challenges in the management of a teenag...

Background: Acromegaly is a rare childhood disorder. The use of a growth hormone (GH) receptor antagonist, pegvisomant, has shown great results in adults with acromegaly. We describe results of pegvisomant therapy in two girls with invasive GH pituitary macroadenomas.Case presentation: Case 1: A somatotroph pituitary macroadenoma was diagnosed in a 8-year-old girl with progressive tall stature (height: 148 cm, >+3 S.D.; growth velocity...

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

Background: Ttf1−/− mice had complete absence of follicular and parafollicular cells, agenesis of lung parenchyma, ventral forebrain, and pituitary. Congenital hypothyroidism (CH) patients with chromosomal deletions encompassing the TTF1 locus and point mutations in the TTF1 gene confirmed its implication in the phenotype: CH with a thyroid gland in place, associated with respiratory distress syndro...

Key words: KBG syndrome, ANKRD11, zebrafish, CRISPR/CasRx, Wnt signaling pathwayBackground: KBG syndrome (KBGS) is a rare condition caused by variant in ANKRD11 gene, which is characterized by intellectual disability, distinctive facial features, macrodontia of the upper central incisors, skeletal anomalies and short stature. Patients carrying loss-of-function ANKRD11 variants exhibit short stature due to defects of bone develop...

Background: Early vascular aging is driven by modifiable lifestyle risk factors, including physical inactivity. Early identification of children at risk of atherosclerosis (AS) is needed for implementing primary preventive measures addressing vascular health. The aim of the study was to determine the association between objectively determined physical fitness (PF) and carotid intima-media thickness (cIMT), used as a reliable noninvasive biomarker of AS in a po...

Background/Aims: Pediatric obesity remains an ongoing serious international health concern. Whether liver dysfunction is related to thyroid dysfunction in this population is controversial. Compare SGPT, TSH, FT4 and insulin resistance indexes between children with obesity or severe obesity.Methods: 279 children (143 females) with ΒΜΙ (≥95percentile) (CDC BMI curves) were divided in two groups (Group 1, ob...

Objective: To examine the clinical and hormonal predictors of start pubertal in boys with constitutional delay of puberty (CDP).Materials and methods: The study included 42 boys with CDP (Tanner1, max LH>10 IU/l of GnRH stimulation test). At the first visit in 14.5±0.7 years we evaluated anthropometric indicators, bone age, testicular volume and hormonal status (TSH, freeT4, prolactin, IGF-1, insulin, DHEAS, cortisol, LH, FSH, estradiol, testost...