(CSEMP047) A CASE OF SERTOLI CELL ONLY SYNDROME AND MALE INFERTILITY CONFOUNDED BY HYPERPROLACTINEMIA

Abstract: The hormonal evaluation of male infertility begins with assessment of hypogonadism. When low testosterone and elevated gonadotropins are present primary testicular failure is suspected. When only one gonadotropin, follicle stimulating hormone (FSH) is elevated, specific testicular anatomic pathology should be considered. Here we highlight a case of an otherwise healthy man in his thirties presenting with infertility. His serum testosterone was noted to be low, with an elevated prolactin. Subsequent imaging confirmed presence of a pituitary macroadenoma. This led to a trial of dopamine agonist therapy (cabergoline) which normalized prolactin and testosterone levels. After 6-months of therapy with cabergoline and a selective estrogen receptor modulator (clomiphene) testosterone levels and sexual function improved, however azoospermia persisted on semen analysis. A normal male karyotype was found, with no Y chromosome microdeletion detected. Decreased testicular volume was noted and a testicular biopsy was performed. Bilateral testicular biopsy samples showed Sertoli cells within the seminiferous tubules with no spermatogonia, confirming the diagnosis of Sertoli Cell Only Syndrome, also known Del Castillo syndrome. On retrospective review of the patient’s initial hormonal profile, the isolated FSH elevation in context of azoospermia was consistent with primary spermatogenic failure.
Interestingly, the patient has an identical twin brother who has fathered two children without fertility concerns. Additional genetic testing for our patient revealed carrier status for a heterozygous CFTR dF508 mutation. Although obstructive reproductive anomalies or and congenital absence of the vas deferens are more commonly associated with CFTR mutations, azoospermia has also been described in individuals with heterozygous mutations. This case describes co-occurrence of Sertoli Cell Only Syndrome and heterozygous CFTR dF508 mutation.