Endocrine Abstracts

Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is defined as aplasia or hypoplasia of the uterus and vagina in female with normal 46,XX karyotype. Isolated congenital absence of the uterus and vagina is classified as MRKHS type 1 (typical form). If it is associated with at least one concomitant congenital malformation that mainly affect the renal and skeletal system, is classified as MRKHS type 2 (atypical form). We report here the cases of MRKH type 2 with i...

Background: Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes due to defects in mitochondrial DNA (mtDNA). Maternal transmission of diabetes and neurosensorial deafness are the main clinical features of MIDD followed by other mitochondrial disorders, myopathies, and macular dystrophy. 3243 A>G is the mutation most frequently associated with this condition, but also other mtDNA variants have been linked with MIDD. We describe the case presenting w...

Aim: Serum sclerostin levels as an indicator of bone resorption in children with congenital adrenal hyperplasia (CAH) have not been evaluated to date. The aim of this study was to determine the role of osteoprotegerin (OPG) and sclerostin in bone metabolism in children with CAH.Methods: Thirty-one patients (19 girls, 12 boys) with CAH (aged 11.6±3.7 years) and 31 healthy children (age- and sex-matched) as controls were included in the study. The patie...