ESPE Abstracts

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...

Background: Hyperinsulinemic hypoglycemia is a heterogeneous condition characterized by inappropriate insulin secretion in the presence of low blood glucose levels. It can have various causes, including genetic, metabolic, syndromic, autoimmune, insulinoma, non-insulinoma pancreatogenous hypoglycemia or non-islet cell tumor hypoglycemia. On the other hand, oculofaciocardiodental syndrome is a rare X-linked dominant condition characterized by multiple congenita...

Background: POR deficiency is a rare form of congenital adrenal hyperplasia, transmitted in an autosomal recessive trait, that is characterized by ambiguous genitalia, impaired steroidogenesis and skeletal malformations similar to those of Antley-Bixler syndrome. It is caused by mutations in the P450 oxidoreductase gene (POR), an electron donor for all microsomal P450 enzymes including the three steroidogenic enzymes P450c 17 (17 alfa-hidroxylase /17,20 lyase)...

Background: Simultaneous pancreas kidney transplantation (SPKT) is a standard treatment option for young adults with type I diabetes (T1D) and concurrent renal failure. Despite the long-term immunosuppressive therapy the patients have better glycemic control, normalized renal function and an improved quality of life. Whether this is also reflected in the skeleton is not that clear yet.Methods: Patients were prospectively...

Background: Disorders of Sex Development (DSD) are a rare disease often caused by complex genetic mechanisms, with a wide spectrum of clinical manifestations that lead to a continous evolution of the diagnostic classification. From 2002, In the Veneto Region, all DSD diagnoses have been collected thanks to the creation of a Registry for Rare diseases, including DSD.Material and Methods: We could retrospectively analyze t...

Introduction: Hyperthyrotropinemia is common in patients with obesity and has been hypothesized that high TSH could be associated with an adverse metabolic profile. Few studies have been performed in pediatric population and the results are controversial.Objective: Aim of the study was to evaluate the association between TSH and metabolic syndrome (MS) in a large group of obese children and adolescents.<p class="abst...

Background: Few previous studies suggested an association between insulin resistance (IR) and TSH serum levels in euthyroid patients. This relation could have some particularities in populations characterized by intrinsic insulin resistance like polycystic ovary syndrome (PCOS) patients.Objective and hypotheses: The aim of our study was to study the relationship between IR and TSH serum levels in adolescent euthyroid PCOS patients....

Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age...