IMPE Abstracts

Background: Hyperandrogenemia resulting in estrogen-mediated accelerated bone maturation and early growth plate fusion largely contributes to short stature in children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Aromatase inhibitors block androgen conversion to estrogen and have been used off-label in children with short stature to improve adult height. There have been no adequately powered studies supporting the use of aromatas...

Background: The adrenocorticotropic hormone (ACTH) is a 39 amino acid polypeptide secreted by the anterior pituitary and regulates cortisol secretion from the adrenal cortex. Cortisol has a negative feedback mechanism and regulates the biosynthesis and secretion of ACTH. Excess of ACTH is associated with a wide range of diseases including congenital adrenal hyperplasia (CAH). Classic CAH due to the 21-hydroxylase (CYP21A2) deficiency causes a reduction or loss...

Contemporary ACTH assays have variable susceptibility to interference by endogenous antibodies, particularly heterophile antibodies, leading potentially to unnecessary investigations1-6. Often, determining the cause of the spurious ACTH results is impossible beyond identifying the presence of interference of heterophile antibodies6. Here we describe two cases of Cushing Syndrome due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD) whose evaluat...

Context: MIRAGE syndrome (OMIM #617053) is a multiorgan disorder including hypoplasia of the adrenal glands and gonads (Narumi S et al., Nat Genet 2016). The syndrome is caused by heterozygous pathogenic SAMD9 variants with potent growth-inhibitory activity. There is no effective treatment for the syndrome, and approximately 40% of documented cases die before age 3.Objective: We aimed to establish a screening me...