Endocrine Abstracts

26 year old gentleman with classic salt-wasting CAH due to 21-hydroxylase deficiency was maintained on hydrocortisone 7.5mg+7.5mg+5mg along with fludrocortisone 100 mg OD. Due to inadequate biochemical control, his hydrocortisone was increased to 10mg+10mg+5mg initially, which was subsequently switched to prednisolone 5mg+2.5mg. His 17-OH progesterone continued to remain high (300-400 nmol/l) with suppressed gonadotrophins and a high normal testosterone suggestive of mostly adrenal origin of his testosterone (as shown in Table below). His testicular ultrasound demonstrated bilateral adrenal rests which were observed to be increasing in size on subsequent scans. His prednisolone was further increased to 5 mg+ 2.5 mg+ 2.5 mg. During this time, he has continued to gain weight and currently having a BMI of 32 Kg/m2. Given concerns regarding potential fertility, he was advised to have semen analysis with a plan for subsequent cryopreservation. Compliance with medication was potentially an issue. He was very concerned about his weight. Initial semen analysis demonstrated azoospermia. His biochemical markers are tabulated below along with changes in his glucocorticoid doses.

Conclusion: The occurrence of testicular adrenal rest tumors (TARTs) along with suppression of the hypothalamic-pituitary-gonadal axis are causes for reduced fertility. Treatment options of for TARTs are principally intensification of glucocorticoid therapy, leading to a reduction in the size of the TARTs by suppression of the ACTH secretion. In can be difficult to adequately suppress excess androgens without causing hypercortisolism. Further intensifications of glucocorticoid therapy might not be favourable option for our patient. Other options would include use of sustained release preparations of steroid, gonadotrophin therapy or future use of CRF antagonists, which are currently on trial along with surgical interventions such as mTESE.