Reproductive Hormone Disorders

Erectile dysfunction (ED) is defined as the inability to achieve or maintain a penile erection, resulting in difficulty to perform penetrative sexual intercourse. Local penile factors and systemic diseases, including diabetes, cardiac disease, and neurological disorders, can cause ED. Diagnosis is via physical exam and history. Management is guided by clearly discussing patient expectations after explaining the benefits and risks. Treatment includes conservative management with lifestyle modifications, oral medications, and injectables. Invasive surgical penile implants may be considered when conservative measures fail. Ultimately, both the patient and partner must be in tune with the treatment modalities to optimize their overall satisfaction.

Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder of reproductive-age women, affecting nearly 5%‒10% of women in the age group. Characterized by hyperandrogenism, chronic anovulation leading to oligomenorrhea (or amenorrhea), and metabolic dysfunction, PCOS increases a woman’s risk for infertility, endometrial hyperplasia or carcinoma, and cardiovascular disease. The pathophysiology is incompletely understood but thought to have a multifactorial genetic basis causing altered pulsatile release of gonadotropin-releasing hormone (GnRH), as well as increases in luteinizing hormone (LH), androgens, estrogen, and insulin: The result is chronic anovulation and hirsutism, which define the condition. Diagnosis is one of exclusion; therefore, other causes of abnormal uterine bleeding and hirsutism must be ruled out. Management includes attempting to restore normal ovulation through weight loss, oral contraceptive pills (OCPs), and fertility assistance.

Kallmann syndrome (KS), also called olfacto-genital syndrome, is a genetic condition that causes hypogonadotropic hypogonadism due to decreased secretion of gonadotropin-releasing hormone (GnRH) by the hypothalamus. Both sexes can be affected, although the incidence is much higher in males. The lack of sex hormones results in impaired pubertal development. Characteristically, there is an associated absence or decreased sense of smell (hyposmia or anosmia), which helps differentiate KS from other conditions. The diagnosis is made by hormone levels in blood and brain imaging showing the absence of olfactory structures. Genetic testing may assist in establishing a definite diagnosis. Treatment consists of hormone replacement therapy.

True hermaphroditism, or ovotesticular disorder of sexual development (ODSD), is characterized by the presence of an ovotesticular gonad that contains both ovarian and testicular elements. Individuals are usually born with ambiguous genitalia, but the diagnosis is rarely confirmed before puberty. The most common karyotype is 46,XX, and less often, 46,XY can be identified. Gonadal biopsy with histologic examination confirms the diagnosis. Management needs to consider the individual’s preferences wherever possible. Treatment options range from hormone replacement to surgical removal of part of the ovotestis gonad to improve fertility and to decrease the risk of malignancies.

Gynecomastia is a benign proliferation of male breast glandular ductal tissue, usually bilateral, caused by increased estrogen activity, decreased testosterone activity, or medications. The condition is common and physiological in neonates, adolescent boys, and elderly men. Some cases are pathological or secondary to chronic liver disease, kidney disease, or hyperthyroidism. The majority of cases are asymptomatic and do not need treatment.

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.

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.

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. The hypothalamic-pituitary- gonadal axis is a system of interrelated endocrine glands that work like a single entity with a series of communications that regulate hormone secretion between them.

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 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.