Eur J Endocrinol. 2020 Jun;182(6):P1P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.
This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH), anti-Müllerian hormone (AMH), and Inhibin B. Accurate quantification of these hormones is crucial in the investigation of individuals with a suspected or newly diagnosed DSD and for their management over the life span.
The authors give clear descriptions of the technological pitfalls associated with laboratory assays for these peptide hormones and relevant factors for quality assurance. Age and sex related reference values are of paramount importance. There are dynamic changes over the first few months of life, during mini-puberty, as well as in puberty and adult life. For example in infancy, compared to girls, boys have higher concentrations of LH, lower concentrations of FSH, and hence high LH/FSH ratio. Hormonal measurements during this early window of life can be used to assess gonadal and reproductive function.
Measuring the combination of gonadotropins, AMH, and/or Inhibin B provides a rapid and powerful tool to differentiate between primary and secondary failure of the HPG axis in the initial evaluation of the patient with DSD. The authors describe in detail the typical hormone patterns seen in different DSD. Clinical guidance is given on the interpretation of the results of peptide hormone analysis for different forms of DSD. This is a very informative and useful paper, a must for every clinician working in the field of DSD and sexual development.