ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol. 2018;89:56–64.McCune Albright syndrome (MAS) is a rare disorder caused by somatic gain-of-function mutations of the GNAS gene [1]. This gene encodes the α-subunit of the Gs protein and its mutations are responsible for persistent stimulation of adenylyl cyclase and dysregulated production of cyclic AMP leading to persistent o...

Arch Dis Child 2019;104:636–638. DOI: 10.1136/archdischild-2019-316986• Prospective cohort study of 9255 neonates at a tertiary care center in Ghana to determine the incidence of disorders of sexual development (DSD) using physical examination, ultrasound and 17-hydroxyprogesterone measurements.• The estimated incidence of a DSD was 28/10,00...

J Clin Endocrinol Metab. 2021 Jan 23;106(2):351–363. doi: 10.1210/clinem/dgaa857. PMID: 33236116.Here, the authors report the long−term outcomes of all 17 known, well−investigated cases of pituitary blastoma. The median age at diagnosis was 11 months, and the most frequent presentations were Cushing syndrome (n=10), cranial nerve palsies including ophthalmoplegia (...