ESPE Abstracts

Background: Idiopathic central precocious puberty (CPP) is mostly described as an isolated entity. A few studies have shown its association with clinical syndromes and rare cases of chromosomal abnormalities.Objective: To clinically characterize patients with CPP, pointing out prevalent associated conditions and phenotypes.Patients and Methods: One hundred and forty-five patients with idiopathic CPP were retrospectively evaluated. ...

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: Primary ovarian failure (POF) is a major cause of female infertility. POF is characterized by amenorrhea, hypo-estrogenism, and elevated gonadotrophin levels. In POF disorder, several genetic alterations have been described, however in most of the patients the etiology of this disorder remains unknown.Objective and hypotheses: To identify new genes implicated in the development of POF using whole-exome sequencing (WES)....

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

Introduction: Genetic investigation in patients with short stature allows diagnostic definition and impacts therapeutic decisions, clinical follow-up, and genetic counseling. That said, next-generation sequencing has created a new clinical challenge by allowing the identification of findings unrelated to the complaint that prompted testing. The ACMG published a list of actionable incidental findings that includes genes whose variants should be reported to pati...

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...