Late initiation of treatment for congenital adrenal cortical hyperplasia and gender change in an adult patient

Abstract

Despite the implementation of screening programs for early diagnosis of congenital disorders, both in the Russian Federation, as well as worldwide, there are still cases of late diagnosis of congenital adrenal cortical hyperplasia (CAH), where after long-standing virilization clinicians often face the need of gender assignment, considering not only the medical indications, but also the patient's self-identification. In this article, we present a rare clinical case of patient with hypertonic type of CAH diagnosed in adulthood. At birth, the patient had ambiguous genitalia; the diagnosis of CAH was made, and the patient was assigned to female gender. However, due to some social factors, the patient was not followed up and received no treatment. The lack of treatment resulted in progression of the virilization, disturbance of the patient's gender self-identification (the female patient considered himself male), final short stature and arterial hypertension. The patient attended endocrinology clinic for the first time at the age of 19. The diagnosis of hypertensive type of CAH was based on clinical manifestation of the virile syndrome combined with hyporeninemic arterial hypertension, as well as the results of multisteroid blood analysis with identification of steroid cortisol precursors and the results of the genetic testing for CYP11B1 gene mutation. Administration of glucocorticoid replacement therapy after the late diagnosis of hypertonic type of CAH did not resolve all of the patient's concerns. The disorder of the gender self-identification in a female patient resulted in the change of the passport gender to the male one, with surgical correction in accordance to the chosen gender and replacement androgen therapy. Persistent arterial hypertension required additional anti-hypertensive treatment. This clinical case highlights that psychosocial, ethnic factors and religious factors should be taken into consideration, as well as the multidisciplinary involvement of endocrinologists, psychiatrists, andrologists and gynecologists is necessary for the management of such patients.