Normosmic idiopathic hypogonadotrophic hypogonadism due to a rare KISS1R gene mutation.

Hypogonadotrophic hypogonadism is due to impaired or reduced gonadotrophin secretion from the pituitary gland. In the absence of any anatomical or functional lesions of the pituitary or hypothalamic gland, the hypogonadotrophic hypogonadism is referred to as idiopathic hypogonadotrophic hypogonadism (IHH). We present a case of a young lady born to consanguineous parents who was found to have IHH due to a rare gene mutation. Learning points: The genetic basis of a majority of cases of IHH remains unknown.IHH can have different clinical endocrine manifestations.Patients can present late to the healthcare service because of unawareness and stigmata associated with the clinical features.Family members of affected individuals can be affected to varying degrees.

Successful fertility treatment with gonadotrophin therapy for male hypogonadotrophic hypogonadism.

UNLABELLED: Gonadotrophin therapy with human chorionic gonadotrophin and recombinant FSH is indicated for use in men with reduced spermatogenesis due to hypogonadotrophic hypogonadism (HH). Patients require regular monitoring for side effects and desired response to treatment. We present a man with HH, azoospermia and a history of previous anabolic steroid usage who had undergone gonadotrophin therapy, had subsequently achieved conception and has now fathered a child. LEARNING POINTS: In total, 15% of couples do not achieve pregnancy within 1 year and seek medical treatment for infertility: male factors contribute to 50% of these.The evaluation of male infertility should include a full history and examination, an endocrine profile and a quality-controlled semen analysis.HH with defective spermatogenesis is an important cause of male infertility in a small percentage of cases.Gonadotrophin therapy requires regular monitoring for side effects and desired response to treatment.Any sustained rise in prostate specific antigen levels should prompt urological assessment for possible prostate biopsy.A multidisciplinary approach is required for gonadotrophin therapy, especially if assisted fertilisation techniques are required once, spermatogenesis is achieved.

Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia.

UNLABELLED: Testicular adrenal rest tumours (TARTs) are benign ACTH-dependent tumours that occur in males with congenital adrenal hyperplasia (CAH) and if left untreated can destroy testicular tissue. Corticosteroid suppressive treatment could result in the regression of these testicular tumours. We present a patient with bilateral large TARTs as a consequence of poor compliance to treatment and follow-up for his CAH, who consequently had to have bilateral orchidectomies and prosthesis replacement. LEARNING POINTS: TARTs are frequently seen in males with CAH, and can be misdiagnosed as primary testicular cancer.Patient compliance to treatment and follow-up are necessary to reduce the risk of testicular damage as a result of TARTs in patients with CAH.Boys with CAH should have periodic ultrasonographic screening from before adolescent age for early detection of TARTs.Regular monitoring of renin, 17-hydroxyprogesterone and androgens levels is required to assess corticosteroid suppressive treatment.Patients with CAH should be offered psychological support and information concerning CAH support groups.