Hypogonadism overview
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Overview
Hypogonadism is a medical term for a defect of the reproductive system which results in lack of function of the gonads (ovaries or testes).
Historical Perspective
Hypogonadim was first reported by Dr. Maestre de San Juan in a case of small testes and loss of smelling sense in patient. Dr. Kallmann after that, in 1944, identified this syndrome and it was named based on his name. Dr. de Morsier reported various cases of hypogonadism with abscent olfactory bulbs in the 1950s.
Classification
Hypogonadism may be classified according to the etiological site into three subtypes primary, secondary or combined. It can also be classified according to the age into two adult and child. Based on the causes, it can be classified into acquired or congenital.[1]
Pathophysiology
Hypogonadism pathophysiology depends mainly on the effect of different factors and diseases on the pituitary-hypothalamic-gonadal pathway. Testosterone is secreted in response to stimulation signals from the brain to the hypothalamus which secrets the gonadotropin releasing hormones (GnRH). GnRH is responsible for secretion of FSH and LH. In males, LH stimulates the leydig cells in the testes which produce testosterone by converting the cholesterol to testosterone. In females, FSH and LH stimulates secretion of estrogen which helps in follicles maturation. Estrogen also helps in the process of ovulation. Deficiency of GnRH leads to decrease of testosterone levels and eventually causing hypogonadism. Genetic mutations have a big role as well in development of hypogonadism. There are more than 25 gene mutations participate in the pathogenesis of hypogonadism. These genes like genes responsible for Kallmann syndrome as ANOS 1, SOX10, SEMA3A, IL17RD and FEZF1. Other genes include KISS, GNRNH and PROK.
Causes
Hypogonadism is commonly caused by congenital and acquired genetic and endocrinological conditions. Malignancies can be life threatening causes and should take priority when diagnosing the etiology.
Differentiating Hypopituitarism from Other Diseases
Hypogonadism must be differentiated from diseases that cause delayed puberty or infertility. These diseases include congenital diseases as Klinefelter syndrome, Kallmann syndrome and cryptorchidism. The diseases include also testicular torsion and orchitis in males, polycystic ovary syndrome, pelvic inflammatory disease and endometriosis in females.
Epidemiology and Demographics
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. Hypogondaism affects men more than women and its prevalence increases with age.[2]
Risk Factors
Common risk factors in the development of hypogonadism in men are dyslipidmia, obesity, alcohol intake, malignancies and metabolic syndrome. Common risk factors in women inlude nulliparious women and those with history of irregular menses. Other risk factors include coronary heart disease, hypertension, heart failure and smoking.[3]
Screening
According to the endocrine society, screening for hypogonadism is not recommended as it costs too much. Hypogonadism screening may be done in order to diagnose the disease early and provide the appropriate treatment. Screening may be done for men patients who present with erectile dysfunction, infertility, HIV patients and young patients with osteoporosis.
Natural History, Complications, and Prognosis
If left untreated, patients with hypogonadism will end up with infertility and rheumatic autoimmune diseases. These autoimmune diseases include rheumatic arthritis and lupus. Complications of hypogonadism depend on age and include ambigous genitalia in the new born, gynecomastia and delay of puberty in the prepubertal phase. Complications include also depression and cardiovascular stroke in the adults. Prognosis of hypogonadism is good with treatment and patients can have normal life along side the appropriate medical therapy.
Diagnosis
History and Symptoms
The most common symptoms of hypogonadims in males include delayed puberty and loss of sexual characters as voice deepening and hair growth. Common symptoms include also erectile dysfunction, small testes, loss of libido and sweating. Common symptoms in females include no breast enlargement and no pubic hair. Less common symptoms include headache, visual impairment, galactorrhea and anorexia nervosa.
Physical Examination
Laboratory Findings
X ray
X ray may be performed in cases of hypogonadism only on bones to assess the bone age and the skeletal growth. Pelvic x ray may be also needed to assess the internal genitalia and detect any masses.
CT scan
There are no CT findings associated with hypogonadism.
MRI scan
MRI scan is performed in cases of hypogonadism to examine the pituitary gland and hypothalamus to detect any tumors that may cause hypogonadism. It is performed in specific patients who present with visual disorders, neurological manifestations and lab findings of hypopituitarism. Possible findings may include empty sella and pituitary adenomas.
Ultrasound
There are no ultrasound findings for hypogonadism.
Other Diagnostic Studies
There are no other diagnostic studies for hypogonadism.
Other imaging findings
There are no other imaging findings for hypogonadism.
Treatment
Medical Therapy
The mainstay of therapy for hypogonadism is the hormonal replacement therapy. Bases on the endocrine society clinical guidelines, testosterone is importan in the treatment of hypogonadism. Different regimens include injected, buccal and transdermal testosterone. For women, estrogen replacement therapy is important besides testosterone.[4]
Surgery
Surgical intervention is not recommended for the management of hypogonadism. However, in some causes of the disease which resembles high risk of malignancy, gonadal tissue should be surgically removed. This is mostly important in genetic diseases like turner syndrome. In males, orchiectomy is indicated if the patient has completely nonfunctioning tetes.
Prevention
There are no established methods for prevention of hypogonadism.
References
- ↑ Rey RA, Grinspon RP, Gottlieb S, Pasqualini T, Knoblovits P, Aszpis S; et al. (2013). "Male hypogonadism: an extended classification based on a developmental, endocrine physiology-based approach". Andrology. 1 (1): 3–16. doi:10.1111/j.2047-2927.2012.00008.x. PMID 23258624.
- ↑
- ↑ Zarotsky V, Huang MY, Carman W, Morgentaler A, Singhal PK, Coffin D; et al. (2014). "Systematic literature review of the risk factors, comorbidities, and consequences of hypogonadism in men". Andrology. 2 (6): 819–34. doi:10.1111/andr.274. PMID 25269643.
- ↑ Petak SM, Nankin HR, Spark RF, Swerdloff RS, Rodriguez-Rigau LJ, American Association of Clinical Endocrinologists (2002). "American Association of Clinical Endocrinologists Medical Guidelines for clinical practice for the evaluation and treatment of hypogonadism in adult male patients--2002 update". Endocr Pract. 8 (6): 440–56. PMID 15260010.