ESPE Abstracts

Introduction: 2020 ESPE guidelines recommend early reevaluation in primary congenital hypothyroidism (PCH) with thyroid in situ (TIS) and with levothyroxine dose lower than 3 mg/kg/day.Materials and Methods: Our Congenital Hypothyroidism screening program determine TSH and TT4 in dried blood spot (DBS) at 48 hours of life. A second DBS (DBS2) is indicated when the first is positive. Multicenter retrospective study (05/2016-05/2020; 105...

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

Background: Childhood obesity is highly prevalent in the MENA region and may be associated with sub-clinical neuropathy.Methods: Children with obesity with normal glucose tolerance (NGT), impaired glucose tolerance (IGT) and Type 2 diabetes Mellitus (T2DM) and healthy controls (HC) underwent body composition analysis, assessment of vibration perception threshold (VPT), monofilament sensitivity and corneal confocal micros...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Background: Aromatase inhibitors (AIs) have been suggested to slow down estrogen-dependent skeletal maturation in pubertal boys with short stature. In the literature, few studies evaluate the efficacy and safety of AIs in boys with growth hormone deficiency (GHD). Objective: To evaluate the auxologic effects and short-term laboratory profiles of combined AI and rhGH therapy in adolescent males with GHD.Subjects and Methods:</stro...

Background: Silver Russell syndrome (SRS) is a heterogeneous disorder characterised by intrauterine and post-natal growth retardation, relative macrocephaly, protruding forehead, feeding difficulties and body asymmetry. Variants in HMGA2 are a rare cause of SRS and despite strong evidence for the crucial role of HMGA2 in growth regulation, its functional role in human linear growth is unclear.Methods: Patients w...

Introduction: ‘Maturity-Onset Diabetes of the Young ‘(MODY) 9 is a rare subtype of MODY, resulting from mutations in the ‘Paired Box Gene 4’ (PAX4) on chromosome 7q32.1. PAX4 is mainly expressed in pancreatic islet cells, playing a crucial role in the development, differentiation, proliferation, and survival of insulin-producing β-cells during embryonic stages, as well as in β-cell regeneration in adulthood. Mutations in PAX4 ...

Introduction: Secondary diabetes (drug-induced and related to diseases of pancreas) increases the burden of care of patients, associated with less favorable outcomes. For many medications, most evidence comes from case reports or extrapolations of adult data and this condition is poorly documented as priority is given to the primary disease. Here we aimed to describe the patients diagnosed as secondary diabetes in our clinic and present the long-term follow-up...

Introduction: Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. In most cases, history, physical examination, and adjunctive biochemical, imaging, and/or molecular genetic testing will ultimately reveal the diagnosis.Methods: In this single-center study, demographic, clinical, endocrinological data of patients <19 years old who were followed up with the...

Objectives: The incidence and importance of endocrine comorbidities related to cystic fibrosis-related diabetes (CFRD) and bone diseases (CFRBD) increase with age. Recent studies have indicated that insulin deficiency in type 1 diabetes mellitus(T1D) may be associated with an increased risk of osteoporosis. Our study aims to evaluate the relationship between glucose metabolism and bone health in pediatric cystic fibrosis patients.<strong...