ESPE Abstracts

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: 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: 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...