ESPE Abstracts

Introduction: Hypoferraemia is the most common nutritional deficiency worldwide and a leading cause of potential developmental disorders in children. Obesity seems to be associated with this condition, but it is still unclear if it is caused either by depleted iron stores, diminished availability, or both.Aim: To analyse the relationships between childhood obesity, iron metabolism and inflammation....

Background: Cleidocranial dysplasia (CCD) is a very rare dominantly inherited autosomal bone disorder mainly characterized by hypoplasia or aplasia of clavicles, failure of cranial suture closure, dental anomalies, short stature, and other changes in skeletal patterning and growth. Heterozygous loss-of-function mutations cause the majority of the abnormalities in the run-related transcription factor 2 gene (RUNX2). This gene is located on chromosome 6p21 and i...

Introduction: Perrault syndrome is a rare autosomal recessive (AR) disorder (<1:1.000.000). Mutations in several genes, including HSD17B4, HARS2, CLPP, LARS2, TWNK, and ERAL1 have been associated with it, reflecting the genetic and clinical heterogeneity of this condition. It is characterized by bilateral mild to severe sensorineural hearing loss (SNHL) in both sexes and gonadal dysgenesis in 46,XX karyotype females. Ovarian dysfunction ranges from underdev...

Introduction: Craniopharyngioma (CP) is a histologically benign rare tumor from the sellar and parasellar region. Its invasion into adjacent structures, namely optic nerve and hypothalamic-pituitary axis brings significant morbidity and warrants surgical treatment. Hypothalamic Syndrome (HS) can occur in different conditions affecting this structure, comprising a cluster of symptoms like pituitary dysfunction, obesity, temperature dysregulation, sleep disturba...

Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...

Background: Loss-of-function mutations of the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS) in 46,XY individuals, causing a disorder of sex development. AIS has a clinical continuum according to the resistance severity, being classified into three main categories: complete (CAIS), partial (PAIS), and mild (MAIS). The authors present a female phenotype patient with CAIS.Case Report: An otherw...

Introduction: In hypoparathyroidism and pseudohypoparathyroidism, impaired parathyroid hormone (PTH) function leads to hypocalcaemia, often presenting in children with acute symptoms such as tetany, seizures, hyperreflexia. High-dose calcium supplementation is usually necessary. However, beyond severe symptoms relief, the primary goal of treatment should be to maintain serum calcium levels in the lower quartile of normal range, in order to prevent nephrocalcin...

Background: Congenital hypogonadotropic hypogonadism (CHH) is defined by a partial or complete failure of pubertal development due to inadequate secretion of gonadotropins, which is triggered by deficient GnRH activity. Diagnosis is confirmed by low sex hormone levels and low or inappropriately normal levels of LH and FSH, in the absence of anatomical abnormalities in the hypothalamic-pituitary axis, and without other pituitary hormone deficiencies.<p clas...

Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...