Endocrine Abstracts

Introduction: MRKH syndrome is a rare congenital disease, which affects 1/5000 female births. It is usually diagnosed in the course of primary amenorrhea investigation. Characteristics are mullerian agenesis with 46XX karyotype. Only Wnt4 gene (1) was involved in a few cases of MRKH with hyperandrogenism. We describe two new cases with MRKH syndrome and complete deletion of TCF2 gene in the heterozygous state, this gene is also involved in monogenic diabetes ...

PHP1B -iPPSD3 per the new proposed classification- is a rare disorder characterized in most patients by proximal tubular resistance to PTH resulting in hypocalcemia, hyperphosphatemia and elevated PTH. Loss-of-methylation (LOM) at the Differentially Methylated Region (DMR) at GNAS exon A/B occurs in all PHP1B patients, but methylation changes at other DMRs within GNAS occur in some familial and most sporadic PHP1B cases. All patients with autosomal dominant PHP1B (AD-...