ESPE Abstracts

Background: Klinefelter syndrome (KFS) is a sex chromosomal disorder characterised by hypogonadism, progressive testicular failure, gynaecomastia and learning difficulties. Genital anomalies are rarely observed in KFS. Androgen insensitivity has been previously postulated, but not proven to cause genital ambiguity in KFS. Androgen receptor (AR) gene defects are reported in AIS, but have not been reported in children with KFS with mild hypospadias. We describe a novel ...

Background: Neonates born from mothers with Graves’ disease are at risk to develop hyperthyroidism due to placental transmission of TSH-receptor antibodies. Neonatal hyperthyroidism should be effectively diagnosed and treated to prevent severe complications of this disease (cardiac symptoms, poor weight gain, severe neurological manifestations).Objectives: To describe the post-natal follow-up of neonates born from women with Graves’ disease.</p...

Background: Vaginal agenesis (VA) in MRKH syndrome can be managed either by surgery or autodilatations.Objective and hypotheses: To compare different managements of MRKH-VA in terms of quality of life, sexual function, anatomical results and complications.Method: National Multicentric observationnal study including 130 patients older than 18, at least one year after completing VA management, from October 2012 to April 2015. 84 had ...

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype associated with primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Objective and hypotheses: Phenotype correlation study (clinical, hormonal, and histol...

Background: Isolated gonadal dysgenesis due to NR0B1 locus duplication is a rare cause of 46,XY DSD. Almost reported cases were a total gonadal dysgenesis with complete female phenotype and streak gonad diagnosed late because of absent of pubertal development and primary amenorrhea. Only two unrelated cases of isolated partial gonadal dysgenesis with molecular characterization have been reported. The risk of gonadoblastoma is high.Family case reports: Al...

Introduction: McCune–Albright syndrome (MAS) is a genetic disorder characterized by constitutive activation of Gsα, resulting in excessive activity of multiple hormones. The most known clinical characteristics are the presence of polyostotic fibrous dysplasia (FD), hyperpigmented skin spots, and gonadotropin-independent precocious puberty (PP). However, other endocrine manifestations can be found like hypophosphatemic rickets due to FGF-23-induced renal phosphate was...

Introduction: Central diabetes insipidus (CDI) is a condition in which large volumes of diluted urine are excreted due to vasopressin deficiency. In most patients, DI is caused by the destruction of neurons in the hypothalamus and the known causes include local inflammation or autoimmune aggression, vascular and infiltrative diseases, as well as compressive masses, trauma or midline cranial malformations. CDI caused by cytomegalovirus (CMV) infection is a very rare condition.<...

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...