hrp0094p1-107 | Adrenal B | ESPE2021

Cortoic Acids: Renaissance of a Forgotten Class of Steroids

Schauermann Marcel , Wachter Ulrich A. , Homoki Janos , Hartmann Michaela F. , Hua Yifan , Remer Thomas , Wudy Stefan A. ,

Initially discovered in the 1970s, the C21 steroidal acids α-cortolic acid, β-cortolic acid, α-cortolonic acid and β-cortolonic acid present the terminal oxidative products of cortisol metabolism. Undergoing renal elimination, these cortoic acids have been assumed to represent up to 25% of total urinary cortisol metabolites. However, their analysis has been difficult, only few data has been published in adults, and this class of steroids has beco...

hrp0084p1-90 | Growth | ESPE2015

Silver-Russell Syndrome without Body Asymmetry in Three Patients with Duplications of Maternally Derived Chromosome 11p15 Involving CDKN1C

Nakashima Shinichi , Kato Fumiko , Kosho Tomoki , Nagasaki Keisuke , Kikuchi Toru , Kagami Masayo , Fukami Maki , Ogata Tsutomu

Background: Silver-Russell syndrome (SRS) is a congenital developmental disorder characterised by pre- and post-natal growth failure, relative macrocephaly, hemihypotrophy, and fifth-finger clinodactyly. Recent studies have shown that gain-of-function mutations of CDKN1C result in IMAGe syndrome (IMAGeS) characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and male genital abnormalities, whereas less severe gain-of-function mut...