Background: Traditionally, the standard endocrinological evaluation of 46, XY DSD cases is based upon measurement of testosterone, dihydrotestosterone and androstenedione and their ratios either in mini-puberty or under human chorionic gonadotropin (hCG) stimulation. However, this method is of limited value in reaching definite diagnosis in many cases. More recently, there is a growing appreciation of the value of assessing Sertoli cell function because the most active compartment of the prepubertal testis is the seminiferous tubule compartment, in which Sertoli cells secrete hormones like anti-mullerian hormone (AMH) and inhibin B.
Objectives: Evaluation of the role of single sample of basal AMH and inhibin B as a tool for investigating the presence and function of the pre-pubertal testis without the need for hCG stimulation test.
Reaching the best and simplest diagnostic approach for such cases in our endocrinology clinic within the available resources and investigations.
Methods and subjects: We studied 33 cases through a whole year. The patients underwent hormonal evaluation of gonadal function, including basal testosterone, FSH, LH, AMH, and inhibin B and hCG stimulation test besides imaging studies.
Results: There were varieties of diagnoses among our subjects. Basal AMH was within normal ranges for age in the majority of cases (69.7%) with a mean of 100.55±75.54. There was a significant correlation between basal AMH and testosterone increment after hCG stimulation. A positive relation was found between AMH and inhibin B. Cases with primary gonadal failure had undetectable AMH and inhibin B and high FSH on the other hand.
Conclusion: Measurement of AMH is highly informative about the presence and function of testes. Although, that cannot obviate the need for hCG test. In cases with anorchia, it might substitute the need for invasive procedure as laparoscopy.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology