ESPE Abstracts

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by mutations in PHEX gene and characterized by low phosphate levels and impaired bone mineralization. Burosumab, a monoclonal antibody targeting fibroblast growth factor 23 (FGF23), has emerged as a crucial therapy for XLH management, increasing serum phosphate levels and improving bone health. Recent studies indicate that inflammation may play a crucial role in the XLH complications...

Background: Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. 25 genes are implicated in causing MCPH among them the RTTN gene. Here we present the case of a boy from two unrelated parents presenting with a complex phenotype carrying a novel mutation in the RTTN gene.Case Pr...

Purpose: The main purpose of the study is to assess the association between obstructive sleep apnea (OSA) and insulin secretion in children with obesity.Objectives: To achieve our aim we have assessed OSA and measured insulin secretion by the using the oral minimal model (OMM) in a cohort of 77 obese children and adolescents.Methods: We retrospectively enrolled children and adolesc...

Background: Carney complex (CNC) is a rare autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome, characterized by abnormal cutaneous and mucosal pigmentation, myxomas of the heart, skin, breast and other non-endocrine tumors. CNC is principally caused by loss-of-function mutations of PRKAR1A gene located at 17q22-24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Cushing’s syndrome is a rare disorder in...

Background: In the published literature, eating disorders appear as a cause of pubertal delay/arrest in young girls. Furthermore, several studies associate anorexia nervosa (AN) with epigenetic changes that may heighten the risk of the disorder and lead to clinical signs as functional hypothalamic amenorrhea. In the present study we investigated whether AN correlates with a distinct DNA methylation profile compared to normal-eating pubertal girls.<p class=...

Background: GLI2 is a transcription factor downstream in SH signaling, playing an early role in ventral forebrain and pituitary development. GLI2 mutations have been reported in patients with holoprosencephaly and/or congenital hypopituitarism, showing significant phenotypic variability. Here, we present a case involving a novel heterozygous missense mutation in GLI2.Case Presentation: An Indian girl, adopted by an Itali...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...