ESPE Abstracts

Direct relationships of estimated birth brain weight(BRW) to birth body weight (BW) ratios (BBR) and of BW<=10.th centile for GA(SGA) with blood serum Insulin-like Growth Factor-II(IG2) to blood serum Insulin-like Growth Factor Binding Protein-3 (IB3) ratios (IG2/IB3R), and inverse relations between BW-SDS and birth chest circumference(CC) / BW ratio (i.e., CC through BW; CC/BWR) have been detected by our group in the human newborn(NWB). We evaluated the possibility that CC...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Background: The hepatokine FGF21 signals through a dual receptor complex consisting of FGFR1c and the obligatory co-receptor β-Klotho to regulate glucose and lipid metabolism. Interestingly, female mice with Fgf21 transgenic overexpression are not only resistant to high-fat diet induced obesity but also present with hypogonadotropic hypogonadism (HH) and infertility. Loss-of-function (LOF) mutations in FGFR1 are a frequent cause of congenital HH (CHH). W...

Background: Main features of the autosomal dominant form of GH deficiency (IGHD II) include markedly reduced secretion of GH combined with low concentrations of IGF-I leading to short stature.Objective and hypotheses: We report on a girl referred for assessment of short stature (−4.6 SDS) at a chronological age of 7 yr 10 mo. The GH deficiency was confirmed by standard GH provocation tests, which revealed severely reduced GH and IGF-I concentration...

Background: Severe congenital growth hormone deficiency (cGHD) is a rare but potentially life-threatening condition. Even though random growth hormone (GH) can confirm cGHD during the first week of life, the diagnosis remains extremely challenging in the absence of reliable reference values in healthy neonates and thus of a best diagnostic cut-off.Aims: First, to provide solid reference values for GH concentrations in te...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

The survival rate of young patients with cancer has greatly improved in the last decades, in part due to the introduction of new therapeutic agents and protocols.Chemotherapy may be associated with risk of ovarian dysfunction, permanent or transient amenorrhea, symptoms of ovarian insufficiency and infertility.It has been suggested that prepubertal ovary is less susceptible to deleterious effect of chemotherapy.<p class="abstex...

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

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...