Increasing awareness about germline predisposition and the widespread application of
unbiased whole exome sequencing contributed to the discovery of new clinical entities with …

The adult human adrenal cortex produces steroid hormones that are crucial for life,
supporting immune response, glucose homeostasis, salt balance and sexual maturation. It …

Abstract Germline SAMD9 and SAMD9L mutations (SAMD9/9L mut) predispose to
myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we …

Context Although primary adrenal insufficiency (PAI) in children and young people is often
due to congenital adrenal hyperplasia (CAH) or autoimmunity, other genetic causes occur …

Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition
that is poorly characterized in children. Objective To describe causes, presentation …

Primary adrenal insufficiency (PAI) is a life-threatening disorder of adrenal cortex which is
characterized by deficient biosynthesis of glucocorticoids, with or without deficiency in …

Biallelic variants of steroidogenic acute regulatory protein (STAR/STARD1) may cause
primary adrenal insufficiency and 46, XY disorder of sex development. STAR plays a pivotal …

Abstract Objective Triple-A or Allgrove syndrome is an autosomal recessive disorder due to
mutations in the AAAS gene, which encodes a nucleoporin named ALADIN. It is …

The medical and psychosocial challenges faced by patients living with
Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a …

Primary adrenal insufficiency (PAI) is a heterogeneous group of disorders characterized by
an impaired production of cortisol and other steroid hormones by the adrenal cortex. Most of …