Reproductive Hormone Disorders

The male reproductive system with testicles and spermatic duct can be divided into different sections, but are treated as one unit in anatomy. This article is concerned with the anatomy and physiology of the male sexual organs. At the end, final pathology concludes with a general view on the most important dysfunctions.

Androgen receptor antagonists are compounds that block androgen receptors and antagonize the effect of androgens such as testosterone. Several conditions such as hirsutism, acne and prostate cancer are known to be dependent on androgens and antiandrogens can help alleviate the symptoms of these condition or even improve the outcome in patients with metastatic prostate cancer.

The Endocrine system of the body consists of endocrine glands which produce metabolic changes through the secretion of chemicals called hormones. The Pituitary gland is considered the ‘Master’ gland of the body. Hormones produced by different endocrine glands have different mechanism of actions. They are interrelated to each other and often regulate each others secretion.

Kallmann’s syndrome is one form of reproductive failure due to severe hypogonadism that is associated with complete loss of the sense of smell. Kallmann’s syndrome is a genetic disorder and several genes such as KAL1, FGFR1, FGF8 and PROKR2 have been associated with the condition. While KAL1 is responsible for the x-linked inherited form of the disease, the other genes are found in patients with autosomal dominant Kallmann’s syndrome. Hormonal replacement therapy is indicated to correct the severe hypogonadism.

Gynecomastia is defined as the glandular enlargement of the male breast due to increased glandular cellular proliferation. Patients present with breast enlargement in addition to other symptoms related to the cause of gynecomastia, such as signs of liver disease or hyperthyroidism. Gynecomastia is also a normal occurrence in neonates and pubertal boys and observation, without any intervention, should be provided for cases in these age groups. If treatment is needed, it should be tailored against the etiology of gynecomastia. Symptomatic gynecomastia that does not resolve with treating the cause can respond to antiestrogens or aromatase inhibitors. Finally, surgical intervention should be offered only to severely symptomatic cases.

Erectile dysfunction is defined as the inability to achieve or maintain a penile erection that would result in the inability to perform vaginal sexual intercourse. Systemic, neurologic and local diseases can cause erectile dysfunction which include but are not limited to diabetes, multiple sclerosis and Peyronie’s disease respectively. History and physical examination are important for the diagnosis of erectile dysfunction. Treatment can be medical with testosterone, sildenafil, or specific medical treatment according to the etiology. Surgical correction might include a penile prosthesis.

Male hypogonadism is a condition characterized by decreased testosterone production and sperm quality or production. This can be the result of primary testicular failure or secondary testicular failure due to pituitary or hypothalamic disorders. Symptoms of hypogonadism include erectile dysfunction, decreased libido, and regression or absence of secondary sexual characteristics. Total testosterone levels are below 300 ng/Dl. Testosterone replacement therapy is the mainstay of treatment.

Ovotesticular disorder of sexual development is characterized by the presence of an ovotesticular gonad that contains both ovarian and testicular elements. Patients are usually born with ambiguous genitalia but the diagnosis is rarely confirmed before puberty. The most common karyotype is 46, XX but 46, XY can be identified in approximately 10% of the cases. Medical treatment of ambiguous genitalia is usually emergency based to treat life threatening conditions such as salt-wasting syndrome in congenital adrenal hyperplasia. Conservative surgery to remove part of the ovotestis gonad is the treatment of choice for this condition.

Sex cord stromal tumors of the testis can originate from either Leydig cells or Sertoli cells. Leydig cells tumors are responsible for 70%. These testicular tumors are known to cause estrogen excess production and a low testosterone-estrogen ratio. Alpha-fetoprotein, human chorionic gonadotropin and lactate dehydrogenase levels are normal in this type of tumors. Ultrasonography confirms the diagnosis of a testicular mass, while biopsy and histologic examination confirm the diagnosis of either Leydig cells or Sertoli cells tumor. Treatment of choice is radical inguinal orchiectomy.

Polycystic ovary syndrome is an endocrinological disorder where there is hyperandrogenism, ovarian dysfunction and multiple ovarian cysts. The most common presenting features are hirsutism, acne, metabolic syndrome and biochemical hyperandrogenism. Patients also have hyperlipidemia and an impaired glucose metabolism. Treatment involves oral contraceptive pills for menstrual abnormalities and hyperandrogenism, metformin for hyperandrogenism and infertility and clomiphene for infertility. Infertile women who do not respond to clomiphene might benefit from gonadotropins or laparoscopic ovarian drilling.