From New Endocrine Entities Requiring New Approaches to New Approaches Leading to New Endocrine Entities

The dynamics pace of modern society is reflected by the medical community, the public health concerns, the quality of life, as well as the specific spectrum of various disorders. The current availability and increased access to genetic testing, for example, in some conditions underlying a short stature or late onset congenital adrenal hyperplasia, might provide a better understanding of these hormonal anomalies, and thus potentially improve clinical practice [13,14,15]. Besides the special importance of genetic diagnosis in pediatric endocrinology, it is also useful in adults as, for instance, thyroid malignancies [16,17]. A case in point is the presence of acanthosis nigricans as a practical and informative tool of insulin resistance accompanying cardio-metabolic conditions with a high epidemiological impact as diabetes mellitus or metabolic syndrome [27,28]. [...]the progress of steroid metabolomics, and molecular genetics, includes some aspects of adrenal disorders, such as CYP11B1/B2 84 immunostaining providing more information on particular entities as Conn’s or Cushing’s syndrome, adrenal incidentalomas, or adrenal cortical carcinoma [29,30]. Baumgartner-Parzer, S.; Witsch-Baumgartner, M.; Hoeppner, W. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency.