Endocrine Abstracts

Introduction: Cryptorchidism is the most common abnormality of male sexual development. Approximately 5% of cases of cryptorchidism are associated with vanishing testes syndrome. This rare condition occurs when an initially normal testicle that existed in fetal life subsequently atrophies. Affected patients usually have normal male external genitalia and hypergonadotropic hypogonadism. This disease is usually diagnosed in early childhood allowing for normal sexual development with timely testosterone therapy. Here we report the highly unusual case of a 42-year-old male patient with an early onset hypergonadotropic hypogonadism left undiagnosed and untreated for 4 decades, most probably secondary to vanishing testes syndrome.

Case report: Forty-two-year-old african male referred to Endocrinology outpatient clinic due to suspected hypogonadism. Phenotypical features included gynoid body fat distribution, gynecomastia, absent facial and truncal hair, micropenis and no palpable testicles in the scrotum. He denied ever experiencing development of male secondary sex characteristics. His medical/surgical history was unremarkable, to the best of his knowledge. Family history was unknown to the patient. Endocrine testing revealed low testosterone (total testosterone of 46 ng/dl and free testosterone of 1.04 ng/dl), elevated gonadotrophins (FSH 27.7 U/l and LH 15.7 U/L), AMH <0.01 μg/l and a normal thyroid and adrenal axis function results. Peripheral blood karyotype was 46, XY. Scrotal ultrasound confirmed cryptorchidism. Pelvic and abdominal echography and MRI did not suggest any ectopic gonadal structures. Skeletal X-Ray and DXA showed no signs of fractures or osteoporosis. The patient was started on monthly testosterone injections with great clinical benefit, namely: increased energy; improved muscular mass; increased penile length; lower voice pitch and development of axillary, facial and pubic hair with male distribution.

Conclusion: This male patient’s clinical course, with failure of normal pubertal progression, along with his endocrinological and radiological presentation suggest a case of late diagnosed early childhood onset hypogonadism. The most likely diagnosis is vanishing testes syndrome, although surgical exploration is yet to be performed. The timing of his diagnosis – during the fourth decade of life – makes this case quite unique. Clinicians should be aware of this condition in face of a male hypogonadic patient, even when presenting during adulthood, if the disease course is suggestive of an early life onset.