ESPE Abstracts

The 1st lockdown from March to May 2020 probably led to an increase in the number of cases of idiopathic central precocious puberty in several European countries. Two Italian studies showed this, as well as a Spanish and a Turkish one. We performed a retrospective study with all the children who came to our department for a 1st appointment or a check-up for pubertal signs between 01/04/2017 and 31/03/2021. We checked the data of 765 files and kept only the children with a diag...

Context: Puberty timing is highly heritable. Recent genome-wide association studies, comparing timing of menarche in girls to timing of voice-break and facial hair in boys, revealed a largely overlapping genetic architecture of female and male pubertal timing. However, it is also known that genetic heterogeneity between sexes exists for some loci.Objectives: We hypothesized that self-reported relative parental pubertal t...

Background: Aromatase (CYP19A1) a member of cytochrome P450 protein family is a major steroid metabolizing enzyme which converts androgens to estrogens. Mutations in aromatase can lead to autosomal recessive aromatase deficiency. An R192H mutation in CYP19A1 described earlier caused severe phenotype of aromatase deficiency with regressive virilization of the 46,XX new-born, but without signs of androgen excess during pregnancy. Computational studies suggested that R192H disrup...

A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-4). Human POR is a diflavin reductase that transfers electrons from NADPH to small molecules, non-P450 redox partners and cytochrome P450 proteins in the endoplasmic reticulum. Cytochrome P450 proteins perform a very wide range of reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic ...

Background: Cytochromes P450 proteins metabolize several steroid hormones, drugs and xenobiotics. All cytochromes P450s in the endoplasmic reticulum require P450 oxidoreductase (POR) for their catalytic activities. Earlier it has been shown that mutations in POR cause metabolic disorders of steroid hormone biosynthesis and also affect some drug metabolizing P450 activities. We aimed to characterize the mutations identified in nonclinical samples to access their effects on ster...

Background: Thyroid imaging is recommended to determine the aetiology of congenital hypothyroidism (CHT). Currently scintigraphy is the gold standard imaging modality. Negative scinitigraphy despite the presence of thyroid tissue may lead to a spurious diagnosis of athyreosis. Few centres routinely perform both scinitgraphy and ultrasound so that the incidence of misclassified athyreosis is unknown.Aim: To describe the incidence of sonographically normal...

Background: Initiation and progression of puberty requires concerted action of activating and inhibiting factors. Recently, cases of central precocious puberty have been linked to loss-of-function mutations of makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role of MKRN3 on GnRH secretion.Objective and hypotheses: To investigate peripubertal circulating MKRN3 levels in healthy boys.Method: Healthy boys (n<...

Background: The steroidogenic enzyme aromatase (CYP19A1) is a protein located in endoplasmic reticulum (ER) that catalyzes the conversion of androgens to estrogens. Both deficiency and excess of aromatase activity lead to disease states implicating its role in human biology. Cytochrome P450 (CYP) enzymes in ER use reduced nicotinamide adenine dinucleotide phosphate through cytochrome P450 oxidoreductase (POR) for their metabolic activities. Mutations in POR cause disorders of ...

Background: It is well known that growth hormone (GH) brings about several effects, involving bone, body composition, lipids and glucose homeostasis. However, the complex interplay between these parameters is rather poorly studied in children with childhood-onset-GH deficiency (CO-GHD).Objective and hypotheses: To investigate lipids, adipokines (leptin- adiponectin- resistin) and glucose homeostasis and their relationship with bone and body composition i...

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...