ESPE Abstracts

Catch-up growth (CUG) is characterized by a period of supranormal height velocity following a transient period of growth inhibition. The two classical hypotheses on the mechanism are the neuro-endocrine hypothesis (a central mechanism that would recognize the degree of mismatch between actual size and target size) and the growth plate hypothesis (local regulation of growth according to a preset cellular program of senescence, characterized by decreasing growth proliferation ra...

The many false-positive diagnoses of IIGHD do not automatically imply that re-testing is needed. Instead, the diagnostic procedure should be improved. Still, re-testing of children can be useful. Regarding the timing, re-testing within 1-2 months would only extend the diagnostic procedure. Re-testing after one year may be a useful option if the growth response appears insufficient. The current approach of re-testing at near-adult height (NAH) is associated with highest GH wast...

The easypod™ electromechanical injection in combination with the easypod Connect platform electronically records and transmits, in real time, accurate, objective records of the date, time and dose injected for patients receiving Growth Hormone (GH) for growth disorders, limiting the risk of misreporting and allowing physicians to accurately monitor patient behavior.The aim was to study individual patterns of adherence from start treatment up to 24 m...

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

Background: There are limited data on differences in height, bone mineral density (BMD) and pubertal delay between homozygous and heterozygous carriers of IGFALS defects.Objective and hypotheses: To describe clinical and laboratory features and BMD of homozygous and heterozygous carriers of a novel IGFALS mutation in a large Kurdish family.Method: Index cases were two first degree cousins presenting with short stature, low IGF1, ve...

Background: STAT5B deficiency is characterized by severe postnatal growth failure, low IGF1, elevated levels of GH and prolactin, and immunodeficiency. To date, only ten patients with seven different mutations have been described.Objective and hypotheses: Describe clinical characteristics of a novel homozygous frameshift mutation in STAT5B.Results: A 17-year-old female was referred for proportionate short stature and prima...

Background: IGSF1 deficiency has been recently found to be a novel cause of x-linked central hypothyroidism, macroorchidism and delayed puberty.Case presentation: We present a family, in which the proband was diagnosed with congenital central hypothyroidism by neonatal screening and treated accordingly. Further pituitary examination revealed an unmeasurable prolactin level, normal IGF1, normal cortisol and no abnormalities of the pituitary on MRI. The pa...

Background and Aims: Coats plus syndrome (MIM # 612199) is a highly pleiotropic disorder particularly affecting brain, eye, bone and gastrointestinal tract. We describe the phenotype of a patient with severe growth failure where whole exome sequencing (WES) revealed compound heterozygosity for two mutations in the CTC1 gene.Patient and Methods: The patient, the fourth child of healthy non-consanguineous parents, was born...

Background: Preterm survivors are found to exhibit deficits in several neurodevelopmental domains. It is unknown whether this could be explained by antenatal glucocorticoid treatment.Objective and Hypotheses: We studied whether antenatal glucocorticoid treatment is associated with behaviour and IQ in young adults born preterm. In addition, we studied whether these associations could be modified by the R23K and N363S polymorphisms in the glucocorticoid re...

Background: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein enriched in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed pubertal rise of testosterone despite normal timing of testicular growth. This syndrome was discovered in patients with CeH; therefore, it is presently unknown whether IGSF1 mutations also cau...