hrp0084p2-515 | Pituitary | ESPE2015

Contrasting Central Diabetes Insipidus due to preproAVP Mutations: Earlier Onset of Symptoms in Recessive than in Dominant Forms

Bourdet Karine , Valette Sophie , Deladoey Johnny , Vliet Guy Van

Background: Central diabetes insipidus may result from mutations in the preproAVP gene, most often heterozygous and occurring de novo or inherited in an autosomal dominant mode; in these cases, intracellular accumulation of the misfolded product of the mutated allele slowly destroys the AVP-producing neurons, so that the onset of symptoms may be delayed for up to 28 years by which time the posterior pituitary hyperintense signal is no longer visible on magnetic resonance imagi...

hrp0094p2-435 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Two pedigrees with congenital bilateral anorchia in one sibling and testicular torsion at adolescence in another: a shared genetic predisposition?

Brachet Cécile , Chiniara Lyne , Vliet Guy Van

Background: In bilateral anorchia or vanishing testes syndrome, testicular function is normal during the embryonic period, as shown by the absence of Müllerian remnants and of hypospadias. Although normally differentiated, the penis may be small due to decreased testosterone secretion during the fetal period. In a normally virilised boy with non-palpable testes, with or without micropenis, the diagnosis is established by undetectable plasma anti-Müllerian hormone (AM...