Hypogonadism resident survival guide

Overview

Hypogonadism is a disorder of the reproductive system which results in lack of function of the gonads (ovaries or testes). Hypogonadism is caused by several conditions which may be congenital, acquired, genetic, or malignancies. Hypogonadism may be classified on the basis of etiology and the site causing the defect into primary or secondary hypogonadism. Primary hypogonadism results from defect in the gonads themselves and it has a high level of the gonadotropin hormones FSH and LH. Secondary hypogonadism indicates a defect in the pituitary gland or the hypothalamus and presents with a low level of the gonadotropin releasing hormone, FSH, and LH. Hypogonadism is also associated with low level of testosterone hormone, especially in the males. Genetic mutations that can cause hypogonadism include ANOS 1, SOX10, SEMA3A, IL17RD and FEZF1. Other genes include KISS, GNRNH, and PROK. Hypogonadism must be differentiated from diseases that cause delayed puberty or infertility. The prevalence of hypogonadism is estimated to be 38,700 per 100,000 individual aging 45 years. The incidence of hypogonadism is 1230 per 100,000 persons. Hypogonadism affects men more than women and its prevalence increases with age. Hypogonadism has many risk factors like dyslipidemia, obesity, malignancies and alcohol intake. Screening may be done for men patients who present with erectile dysfunction, infertility, HIV patients and young patients with osteoporosis. If left untreated, patients with hypogonadism will end up with infertility and rheumatic autoimmune diseases. Hypogonadism can cause complications like gynecomastia and delay of puberty in the prepubertal patients. It can also cause depression and cardiovascular stroke in the adults. Hypogonadism usually has a good prognosis with the proper treatment. Patients with hypogonadism usually present with loss of the secondary sexual characteristics. Male patients present with infertility, loss of libido, and erectile dysfunction. Female patients present with amenorrhea and no pubic hair. Lab diagnosis reveals low testosterone levels, variable FSH and LH levels according to the cause of hypogonadism whether primary or secondary. The mainstay of treatment for hypogonadism is testosterone replacement therapy and it can be administrated through different regimens injected, transdermal or buccal. In females, estrogen replacement is helpful besides testosterone.

Causes

Life Threatening Causes

• Astrocytoma
• Chronic renal failure
• Papillary renal cell carcinoma 
• Postinfectious lesions of the central nervous system (CNS)
• Ureter cancer 
• Urinary system cancer 
• Wilms tumor
• Infective endocarditis

Common Causes

• Anorchidism
• Chemotherapy
• Cryptorchidism
• FSH beta subunit mutation (follicle stimulating hormone)
• FSH receptor mutation
• Klinefelter Syndrome
• LH (luteinizing hormone) beta subunit mutation
• LH receptor mutation
• LH resistance
• Radiation therapy
• Sertoli-cell-only syndrome
• Testicular biosynthetic defects
• Autoimmune oophoritis
• Chemotherapy
• Familial and sporadic XX gonadal dysgenesis and its variants
• Familial and sporadic XY gonadal dysgenesis and its variants
• FSH beta subunit mutation (follicle stimulating hormone)
• FSH receptor mutation
• Galactosemia
• Glycoprotein syndrome type 1
• LH (luteinizing hormone) beta subunit mutation
• LH/human chorionic gonadotropin resistance
• LH receptor mutation
• Noonan Syndrome
• Premature menopause
• Polycystic ovarian disease
• Radiation therapy
• Resistant ovary
• Turner Syndrome
• Astrocytoma
• Bardet-Biedl Syndrome
• Congenital adrenal hypoplasia
• Congenital hypogonadotropic hypogonadism
• Craniofacial anomalies
• Craniopharyngioma
• Exercise-induced amenorrhea
• Functional gonadotropin deficiency
• Gaucher Disease
• Germinoma
• Head trauma
• Hyperprolactinemia
• Hypothalamic glioma
• Isolated FSH deficiency
• Isolated LH deficiency
• Kallmann Syndrome
• Langerhans histiocytosis
• Laurence-Moon Syndrome
• Marijuana use
• Optic glioma
• Other germ cell tumors
• Pituitary tumor
• Postinfectious lesions of the central nervous system (CNS)
• Prader-Willi Syndrome
• Radiation therapy
• Vascular abnormalities of the CNS

Diagnosis

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Treatment

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Do's

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Don'ts

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References

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