ESPE Abstracts

Background: Measurement of testicular volume is important when conditions associated with a delay or advance in the onset of puberty, or micro- and macroorchidism, are suspected. Measured testicular volumes must be compared with reference data, preferably expressed in S.D. curves using the LMS method, as is routinely done for many auxological measurements in pediatrics. The current study therefore aimed to construct LMS-smoothed age-reference charts for testicul...

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...

Background: Early-onset severe obesity due to leptin deficiency typically results from a defect of leptin production or secretion due to mutations in the leptin gene. Recently we described a new form of leptin deficiency caused by bioinactivity of the hormone and associated with high circulating leptin levels (New England Journal of Medicine 2015 372 48–54).Method: Serum leptin was measured by ELISA. The leptin gene was seq...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Background: Loss-of-function of immunoglobulin superfamily, member 1 (IGSF1) causes an x-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency, and variable partial growth hormone deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking.<p class=...

Background: Ten percent of children born small for gestational age fail to catch-up and remain short during childhood (SGA-SS). Several genes causing SGA-SS have been described, however, in most cases, the mechanisms of prenatal and postnatal growth impairment remain unknown.Aim: To decipher genetic etiologies within a large single-center cohort of SGA-SS children in order to better understand the pathophysiological mech...

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

Human growth is a complex trait. A considerable number of gene defects have been shown to cause short stature, but there are only few examples of genetic causes of non-syndromic tall stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated b...

Introduction: Familial tall stature (FTS) is defined as height taller than +2 SD in a subject growing within his/her midparental height (MPH) with no apparent dysmorphic features. FTS is routinely not an indication for genetic investigation. However, some subtle dysmorphic features of various genetic disorders might be missed justifying the need for further investigation.Aims: To elucidate the genetic cause of FTS and to...

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...