Endocrine Abstracts

Introduction: XX male syndrome is a disorder of sex development associated with a 46, XX karyotype and is characterized by such features as: small testes, hypergonadotropic hypogonadism, male external genitalia, gynecomastia and azoospermia. The estimated prevalence is 1/20.000 males. Gender role and gender identity are reported as male. Identification and subsequent treatment is necessary to avoid the manifestations of testosterone deficiency.

Clinical Case: 23 year old male presented to our medical appointment manly due to a history of erectile dysfunction but also presented with loss of libido, bilateral gynecomastia, infertility and showed signs and symptoms of clinical depression. He had no relevant family history. In the physical examination the patient had a weight of 70 Kg, normal development of secondary sexual characteristics and presented with a bilateral testicular atrophy with a volume of 6ml/testis. Blood analysis showed: LH 11.04 mUI/ml [Reference range (RR) 1.3-12.9], FS 30.81 mUI/ml (RR 0.9-15); Free testosterone 1.56 ng/ml (RR 2.7-10,7) and total testosterone 7,6 pg/ml (RR 2.7-10.7). There were no findings on the brain MRI. There were no other alterations in the US besides the atrophy. The karyotype test revealed the following: 46,XX. ish ins(X,Y)(p2;q11.2)(SRY+). The patient promptly started on testosterone with meaningful improvement of is libido, erectile dysfunction and return of LSH, FH and testosterone to levels within range. The bone densitometry reported an osteopenia and the spermiogram revealed an azoospermia. Medically assisted reproduction was initiated but the patient renounced it after a while. Until this day, the patient hasn’t had any relevant clinical problem since the beginning of the treatment with testosterone.

Discussion: We present a clinical case of a male with an XX male syndrome positive for SRY gene. This is due to a Y to X translocation during meiosis and SRY is the main driver to testes formation. Our patient presents with an array of classical signs and symptoms and although it is reported that infertility is mainly the first recognisable problem, for our patient, erectile dysfunction was the main cause for seeking medical attention. Obstructive azoospermia was ruled out after performing US.

Conclusions: In these patients we should performed an adequate screening to set the better treatment depending on the phenotypic characteristics and be vigilante for any morbidity related to testosterone deficiency. The follow up by a multidisciplinary approach is ideal, especially if the patients seeks fertility options.