ESPE Abstracts

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 ...

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: Hetero- and homozygous mutations in Steroidogenic Factor1 (SF1, NR5A1) cause 46,XY and 46,XX disorders of sex development (DSD), azoospermia, and primary ovarian insufficiency. NR5A1 is also involved in embryonic spleen development, by transactivation of T-cell Leukemia Homeobox 1 (TLX1). Hypo- or asplenism have occasionally been observed in DSD patients with NR5A1 mutations.<p clas...

Background: Children with biallelic GHRHR gene pathogenic variants share a phenotype of growth failure starting in infancy and resulting in a proportionate short stature and bone age delay due to a complete isolated growth hormone (GH) deficiency. The genotype ranges from rare promotor mutations to the more frequent splicing mutations, some genotypes being specific to certain geographic areas. Diagnosis is mainly made around the age of 7 years and more often i...

Background: Circadian disorganization of feeding behavior evoked by high fat diet (HFD) intake is suggested to be involved in the resulting weight gain and development of associated metabolic alterations and hypothalamic inflammation.Hypothesis: We hypothesized that this circadian alteration might be a consequence of rapid de-synchronization of different gene clusters relevant for metabolic control.Methods: We analyzed the circadia...

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

Introduction: The association of juvenile hypothyroidism, precocious puberty and ovarian enlargement is known as Van Wyk and Grumbach syndrome (VWGS). This diagnosis is considered on the basis of imaging findings and thyroid function analysis.Case report: Herein we report a case of 9 years old girl was referred to the endocrinology department with a suspicion of precocious puberty after having progressive breast enlargem...

Background: Thyroid hormone resistance (THR) is a rare genetic disorder that may be caused by thyroid hormone (TH) cell transporter defects or metabolism defects, but most cases are caused by an inherited mutation in the TH receptor beta (THRB) gene. The reduced responsiveness of target tissues to TH is characterized by elevated TH and a normal or elevated thyroid-stimulating hormone (TSH) level. Differentiating between THR and TSH-producing pituitary...

Introduction: Van-Wyk Grumbach syndrome (VWGS) described in 1960 associate Primary hypothyroidism to early puberty, polycystic ovaries and pituitary adenoma with or without hyperprolactinemia. It is a very rare cause of precocious puberty, which the etiopathogenis is not yet very clear.Observation: We report the case of an 8 year old girl known for trisomy 21, she presented a Primary hypothyroidism treated initially with...

Glial cells are the most abundant cell type in the CNS. Although they were originally thought to only play a supportive role for neurons, it is now clear that glial cells are involved in all aspects of brain function. Understanding how glia, and in particular astrocytes, tanycytes and microglia, participate in the neuroendocrine control of metabolic homeostasis has come to the forefront in recent years. This is largely due to the observation that high fat diet-induced hypothal...