ESPE Abstracts

Background: Body weight has a close correlation with bone mass in humans and high fracture rates has been reported in both obese and underweighted individuals. It is not clear the role of bone marrow adiposity (BMA) and the IGF system in this process.Aim: The aim of this study was to analyze bone composition and BMA in obese and non-obese children/adolescents and correlate them with the expression of the IGF type-1 receptor (IGF1R) in peripheral lymphocy...

Background: A portion of 160 kb on Xp21.2 is defined as dosage sensitive sex reversal, including NR0B1, which is considered the most likely candidate gene involved in XY gonadal dysgenesis if overexpressed. The excess of NR0B1 gene product seems to disturb testicular development by down regulating NR5A1, WT1, and SOX9. Xp duplication causes insufficient SRY expression leading to testis development failure. However, NR0B1 si...

Introduction: Overgrowth syndromes comprise an heterogeneous group of rare disorders characterized by generalized or segmental excessive growth commonly associated with additional features, such as developmental delay, visceromegaly and macrocephaly. They may present with inherent health concerns and, in some instances, an increased risk of tumor development requiring prompt diagnosis and appropriate referral.Objective: ...

Background: Some IGFALS variants have been reported in more than one ALS-deficient family raising the question whether they originated from a single common ancestor allele (founder effect) or alternatively, as independent mutational events (hot spot). Since c.103dupG (p.E35Gfs*17) is located in a stretch of five consecutive guanine residues, where both G-duplication and deletion have been described in several families, we speculate that this region could be a hot spot...

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

Background: GH revolutionised treatment of children with GH deficiency, conditioning an improvement in height outcome but also an increase of lean body mass and reduction of fat mass.Objective and hypotheses: The authors aimed to evaluate the growth and weight response in children with GH deficiency and identify potential factors affecting the outcome of these patients.Method: The growth and weight data of 58 children (33 boys and ...

Background: 46,XY gonadal dysgenesis (GD) is a spectrum disorder which lead to variable degrees of atypical external genitalia, ranging from female to micropenis and absent of gonadal tissue (known as Embryonic Testicular Regression Syndrome -ETRS). Most patients with 46,XY GD remains without a molecular diagnosis.Objective: To report the DEAH-box helicase 37 gene (DHX37) as a novel candidate for the GD etiology.Patients a...

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...