PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans.

Context Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis syndrome caused by homozygous variants in PPP2R3C gene. This gene encodes B″gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of most mammalian cell types.

Cushing's syndrome due to a non-adrenal ectopic adrenocorticotropin-secreting Ewing's sarcoma in a child.

Ectopic ACTH syndrome (EAS) is extremely rare in the pediatric age group. Sarcomatous tumors causing EAS are even rarer. We report a 9 year-old girl presenting with Cushing's syndrome caused by ectopic ACTH production by a Ewing's sarcoma.