ESPE Abstracts

Introduction: Female patients treated with alkylating agents in childhood are at risk for ovarian impairment. We aimed at describing the pattern of residual ovarian function in a cohort of hematological cancer survivors, assessing the relationship between the cumulative dose of alkylating agents administered (expressed as Cyclophosphamide Equivalent Dose - CED) and Anti-Müllerian Hormone (AMH) levels.Methods: Gonada...

Introduction: Precocious Peripheral Puberty (PPP) due to autonomous ovarian activation is the most frequent endocrinopathy in girls with McCune-Albright Syndrome (MAS). Main goals of treatment for PPP are to reduce signs of estrogen exposure, also improving final height, and mitigate secondary psychological influence of sexual hormones exposure. This retrospective study analyzes the long-term safety and efficacy of letrozole treatment in a cohort of girls with...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

Central precocious puberty (CPP) is effectively treated by inhibition of GnRH signaling through GnRH receptor desensitization with depot GnRH agonists (dGnRHa), but the first injection is associated with a surge in LH and FSH (flare) that proportionally increases estradiol levels. When estradiol levels drop, usually within a fortnight, vaginal bleeding may be seen in a small number of girls. Although dGnRHa that use higher, longer-acting doses are increasingly being used in gi...

Background: It has been previously proposed that not all children with short stature displaying an inadequate response to tests for growth hormone (GH) secretion truly suffer from GH deficiency (GHD). Instead, amongst these, solely children with an identifiable monogenic cause of GHD or an identifiable functional or anatomical anomaly in the hypothalamic-pituitary axis should be considered GHD. The remaining patients should be defined as affected by “sho...

Background: Central precocious puberty (CPP) is uncommon before the age of 4 and treatment with GnRH analogues have shown unequivocal benefits. CPP during or near mini puberty entails differential clinical and biochemical features in the diagnosis and leads to longer treatment and follow-up. There are very limited studies with long-term outcomes about CPP girls exclusively < 4 years of age regarding growth, menarche, and adult height after GnRHa withdrawal....

We describe a 5 years-old patient referred to our centre for dysmorphic features and delayed psychomotor development. Negative family history, second child, full-term birth, eutocic delivery, regular growth parameters at birth and neonatal adaptation. Autonomous walking at 20 months with clumsiness; first words at 2 years with dysarthria and dysphagia. Brain MRI and array-CGH were normal. At the neurological examination: perioral hypotonia, sialorrhea, praxic difficulties. At ...

Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life, being the intellectual disability, developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problem...

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

Background: The peptides obestatin and adropin are thought to regulate glucose and lipid metabolism, weight gain, and fluid intake in adults. The roles of obestatin and adropin in the regulation of weight and glucose and lipid metabolism in Prader-Willi syndrome (PWS) and non-syndromic pediatric obesity are poorly understood. This study compares the concentrations of obestatin and adropin in infants and children with PWS and age- and BMI-z matched controls, and explores the as...