ESPE Abstracts

Background: Mutations in Steroidogenic factor 1 (SF-1; also known as NR5A1), a transcription factor involved in sexual differentiation, steroidogenesis and reproduction, have been associated with mild to severe XY and XX DSDs and adrenal failure. Asplenia and complete XY sex reversal were recently reported in a Palestinian patient homozygous for p.R103Q NR5A1 mutation.Clinical Cases: Five Pales...

Background: In hypogonadotropic hypogonadism (HH), hypophyseal follicle-stimulating and luteinizing hormones, normally released with GnRH stimulation, are detected low. Since kisspeptin (KP) is a strong stimulant of GnRH neurons, it is considered to have a role in HH aetiology. It may be hypothesized that abnormal plasma levels of KP are indicative of HH.Aim: Evaluation and comparison of plasma KP levels in boys of pre-p...

The mutation of the SHOX gene is a cause of short stature by varying frequency depending on the published work, but estimated at around 3-10 % of cases of short stature. The main diagnostic scheme for starting genetic testing is the Rappold score, which requires clinical and radiological criteria, under which this form of short stature is framed as a disharmonious. In our clinical experience, however, we also looked for mutations in the SHOX gene in patients with signs of ...

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...

Context: Specific references for height, weight and BMI that consider the maturation tempo for onset of puberty are lacking worldwide.Aim: To fill the gap, by developing specific pubertal references for heightSDS, weightSDS and BMISDS, all aligned for the individual onset of puberty.Method: Reference population: a subgroup of GrowUp1990Gothenburg cohort of 1572 (763 girls) health...

Introduction: The National Registry of Civil Status through circular 33 of February 24, 2015 instructed the guidelines for the allocation of a sex through an inscription on the Civil Registry of Birth for intersexual minors.Objective: To create clinical and medical awareness on the importance of making an accurate diagnosis of Congenital Adrenal Hyperplasia CAH in order to avoid adverse effects due the omission of the due diligence by violating of the pr...

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

Background: Recently, patients with severe obesity have been described due to functional leptin deficiency. This new entity is characterized by high immunoreactive levels of circulating leptin (Lep), but a reduced bioactivity of the hormone due to defective receptor binding (N Engl J Med 2015;372:48–54). Since these patients can be successfully treated with human recombinant leptin (metreleptin), a diagnostic tool to detect functional leptin deficiency is needed.<p cl...

Background: Prader–willi syndrome (PWS) is characterized by decreased fetal activity, obesity, muscular hypotonia, MR, short stature, hypogonadism and small hands and feet. Little information is available concerning PWS and kidney involvement.Objective and hypotheses: We report two patients with PWS and congenital abnormalities of kidney and urinary tract (CAKUT).Method: First case: male, born at 35 weeks with caesarian sectio...

Background: Patients with PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome and germ line mutations in PTEN frequently develop lipomatosis, for which there is no standard treatment. Rapamycin was shown to reduce the growth of lipoma cells with heterozygous PTEN deficiency in vitro, but concomitantly induced an up regulation of AKT phosphorylation.Objective and hypotheses: Since it was shown that resveratrol stabilizes PTEN,...