Obesity Due to Steroid Receptor Coactivator-1 Deficiency Is Associated With Endocrine and Metabolic Abnormalities.
Tessa M CacciottoloElana HenningJulia M KeoghPierre Bel LassenKatherine LawlerRebecca BoundsRachel AhmedAliki PerdikariEdson Mendes de OliveiraMiriam SmithEdmund M GodfreyElspeth JohnsonLeanne HodsonKarine ClémentAgatha A van der KlaauwDavid R FitzPatrickPublished in: The Journal of clinical endocrinology and metabolism (2022)
SRC-1 variant carriers exhibit hyperphagia in childhood, severe obesity, and clinical features of partial hormone resistance. The presence of adipose tissue fibrosis and hepatic fibrosis in young patients suggests that close monitoring for the early development of obesity-associated metabolic complications is warranted.