A9_5 Infertility

This chapter explains normal reproductive function in males and females and provides an overview of related disorders, including: hypogonadism, Turner’s syndrome, gonadal dysgenesis, resistant ovary syndrome, amenorrhea, prolactinoma, Klinefelter’s syndrome, anorchia, Sertoli cell-only syndrome, androgen resistance, hyperprolactinemia, and abnormal sperm transport and viability. For each immunoassay analyte of interest in this field the biological function is explained, with the clinical applications of the test and its limitations. Typical assay technology is described. The type of sample and frequency of use are included, with an example reference interval (for background information only). The analytes included are luteinizing hormone, follicle-stimulating hormone, prolactin, anti-Müllerian hormone, inhibin, estradiol, progesterone, testosterone, dihydrotestosterone. Relevant stimulation tests are also explained (luteinizing hormone-releasing hormone test, thyrotropin releasing hormone test, human chorionic gonadotropin test). In the final section, there is an example of a test strategy for infertility in women.

Dr Michael John Wheeler BSc, MSc, PhD, FRCPath is a Consultant Clinical Biochemist. Until 2005 Dr Wheeler worked at Guy’s and St Thomas’ NHS Foundation Trust. He was deputy head of the Department of Chemical Pathology, Director of the Supra Regional Assay Service for Hormones and Director of the Department of Health Evaluation Service for diagnostic kits and equipment for hormones. From 2005 to 2012 he sat on a number of committees of CPA (UK) Ltd, had a consultancy at the University of Surrey and lectured. He has published over 100 peer reviewed papers and a number of books and book chapters. He currently assesses External Quality Assessment Schemes and Clinical Biochemistry departments for accreditation for CPA (UK) Ltd and the United Kingdom Accreditation Service (UKAS). He is also on the steering committee of the Vitamin D EQAS (DEQAS) and acts as a private consultant in clinical biochemistry and quality assessment.

Infertility, female, menstrual cycle, Graafian follicle, male, homeostasis, hypothalamus, pituitary, gonads, hypogonadism, Turner’s syndrome, gonadal dysgenesis, menopause, resistant ovary syndrome, amenorrhea, prolactinoma, Klinefelter’s syndrome, anorchia, Sertoli cell-only syndrome, androgen resistance, hyperprolactinemia, anorexia nervosa, sperm, sperm transport, sperm viability, luteinizing hormone, lutropin, follicle-stimulating hormone, follitropin, prolactin, anti-Müllerian hormone, inhibin, estradiol, progesterone, testosterone, dihydrotestosterone, gonadotropin-releasing hormone, thyrotropin releasing hormone test, sex hormone binding globulin, human chorionic gonadotropin (hCG), hCG test.

Drabovich, A.P., Saraon, P., Jarvi, K. & Diamandis, E.P. Seminal plasma as a diagnostic fluid for male reproductive system disorders. Doi:10.1038/nrurol.2014.74; Nat. Rev. Urology 11, 278–288 (2014).

Summary: seminal plasma is a potential source of biomarkers of male reproductive system disorders. Drabovich et al. describe the development of seminal plasma proteomics and the progress towards the clinical use of biomarkers of male infertility and prostate cancer.

Willemsen, R.H., Elleri, D., Williams, R.M., Ong, K.K. & Dunger, D.B. Pros and cons of GnRHa treatment for early puberty in girls. Doi:10.1038/nrendo.2014.40; Nat. Rev. Endocrinol. 10, 352–363 (2014).

Summary: The utility of gonadotropin-releasing hormone agonists (GnRHa) treatment in girls with early puberty are much debated, as are its limitations. Here, the authors outline the different types of early puberty, the short-term and long-term effects of GnRHa treatment, life-course consequences of early pubertal development and areas in need of additional research.