The document described a case of a Japanese girl diagnosed with non-classical 21-hydroxylase deficiency (NC-21OHD) after initially normal newborn mass screening. Despite the negative screening, she exhibited symptoms such as rapid growth, virilization, and elevated testosterone levels, leading to her diagnosis. Genetic analysis revealed compound heterozygosity for CYP21A2 variants. Treatment with hydrocortisone normalized testosterone levels and controlled clitoromegaly, although her overgrowth persisted. The study highlighted the challenges in diagnosing NC-21OHD, especially with negative newborn screenings, and emphasized the importance of considering this condition in cases of virilization or precocious puberty. The authors noted the need for further data accumulation and individualized treatment approaches due to phenotypic variability.
July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
1 citations
,
May 2013 in “Hair transplant forum international” Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
5 citations
,
September 2012 in “BMJ case reports” Ashwagandha may improve hormone levels and reduce hair loss in non-classical adrenal hyperplasia.
