Hypogonadism overview: Difference between revisions
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{{Hypogonadism}} | {{Hypogonadism}} | ||
{{CMG}} {{AE}} {{AEL}} | |||
==Overview== | ==Overview== | ||
Hypogonadism is a disorder of the [[reproductive system]] which results in lack of function of the [[gonad]]s ([[ovary|ovaries]] or [[testis|testes]]). Hypogonadism is caused by several [[diseases|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 is characterized by high level of the [[Gonadotropins|gonadotropin hormones]] ([[FSH]] and [[LH]]). Secondary hypogonadism indicates a defect in [[pituitary gland]] or [[hypothalamus]] and presents with a low level of [[Gonadotropin-releasing hormone|gonadotropin releasing hormone]], [[FSH]], and [[LH]]. [[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 may cause [[delayed puberty]] or [[infertility]], such as [[Klinefelter syndrome]], [[Kallmann syndrome]] and [[cryptorchidism]]. 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. If hypogonadism left untreated, patients will end up with [[infertility]] and [[rheumatic]] [[autoimmune diseases]]. Hypogonadism can cause complications like [[gynecomastia]] and [[Delayed puberty|delay of puberty]] in the prepubertal patients. It can also cause [[depression]] and [[Stroke|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 loss of [[pubic hair]]. Laboratory evaluation may reveal low [[testosterone]] levels and variable [[FSH]] and [[LH]] levels according to the cause of hypogonadism whether primary or secondary. The mainstay of treatment for hypogonadism is [[Testosterone|testosterone replacement therapy]] and it can be administrated through different regimens [[Testosterone (injection)|injected]], [[Testosterone (transdermal)|transdermal]] or [[Testosterone (buccal)|buccal]]. In females, [[estrogen]] replacement is helpful besides testosterone. | |||
==Historical Perspective== | ==Historical Perspective== | ||
Hypogonadism was first reported by Dr. Maestre de San Juan in a case of small [[testes]] and [[Anosmia|loss of smelling]] [[sensation]]. Dr. Kallmann in 1944 identified this syndrome which was named on him after that. Dr. de Morsier reported various cases of hypogonadism with absent [[Olfactory bulb|olfactory bulbs]] in the 1950s. | |||
==Classification== | ==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. | 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]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Hypogonadism pathophysiology depends mainly on the | Hypogonadism pathophysiology depends mainly on the deficiency of the [[Testosterone|testosterone hormone]]. [[Testosterone]] is secreted in response to stimulation from the [[brain]] to the [[hypothalamus]] which secretes the [[Gonadotropin-releasing hormone|gonadotropin releasing hormones (GnRH)]]. [[GnRH]] is responsible for secretion of [[FSH]] and [[LH]]. In males, LH stimulates the [[leydig cells]] in the [[Testicle|testes]] which produce [[testosterone]] by converting the [[cholesterol]] to testosterone. In females, [[FSH]] and [[LH]] stimulate secretion of [[estrogen]] which helps in [[Follicle|follicles]] maturation. Also, [[estrogen]] is involved in the [[ovulation]] process. [[GnRH]] deficiency may lead to decrease of [[testosterone]] levels and eventually causing hypogonadism. [[Genetic mutations]] have a major role in the development of hypogonadism as well as other factors. There are more than 25 [[Gene mutation|gene mutations]] participate in the pathogenesis of hypogonadism. Genes that are responsible for [[Kallmann syndrome]] include ANOS 1, [[SOX10]], [[SEMA3A]], IL17RD and FEZF1. Other influencing [[genes]] are KISS, GNRNH, and PROK. | ||
==Causes== | ==Causes== | ||
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==Differentiating Hypopituitarism from Other Diseases== | ==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. | Hypogonadism must be differentiated from [[diseases]] that cause [[delayed puberty]] or [[infertility]]. These diseases include [[Congenital disease|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== | ==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. | 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. | ||
==Risk Factors== | ==Risk Factors== | ||
Common risk factors in the development of hypogonadism in men are | Common risk factors in the development of hypogonadism in men are [[dyslipidemia]], [[obesity]], [[alcohol]] intake, [[malignancies]] and [[metabolic syndrome]]. Common risk factors in women include nulliparity and [[dysmenorrhea]]. Other risk factors include [[coronary heart disease]], [[hypertension]], [[heart failure]], and [[smoking]]. | ||
==Screening== | ==Screening== | ||
According to the endocrine society, screening for hypogonadism is not recommended as it | According to the endocrine society, screening for hypogonadism is not recommended as it is not cost-effective. Hypogonadism screening may be done in order to diagnose the disease early and provide the appropriate treatment. Screening may be done for men who present with [[erectile dysfunction]], [[infertility]], [[HIV]], and young patients with [[Osteoporosis (patient information)|osteoporosis]]. | ||
==Natural History, Complications, and Prognosis== | ==Natural History, Complications, and Prognosis== | ||
If left untreated, patients with hypogonadism will end up | If left untreated, patients with hypogonadism will end up with [[infertility]] and [[rheumatic]] [[autoimmune diseases]]. The rheumatic [[autoimmune diseases]] include [[Rheumatoid arthritis|rheumatic arthritis]] and [[systemic lupus erythematosus]]. Complications of hypogonadism depend on age and include [[ambiguous genitalia]] in the new born, [[gynecomastia]], and [[Delayed puberty|delay of puberty]] in the prepubertal phase. Complications include also [[depression]] and [[Stroke|cardiovascular stroke]] in the adults. Prognosis of hypogonadism is good with treatment and patients can have a normal life alongside the appropriate medical therapy. | ||
==Diagnosis== | ==Diagnosis== | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
The most common symptoms of | The most common symptoms of hypogonadism in males include [[delayed puberty]] and loss of [[Sexual characteristics|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 a [[headache]], [[visual impairment]], [[galactorrhea]], and [[anorexia nervosa]]. | ||
===Physical Examination=== | ===Physical Examination=== | ||
Common physical examination findings of hypogonadism include the absence of [[secondary sexual characteristics]] in both male and females. In males, [[pubic hair]] loss, no beard hair, small [[testicular]] size and [[Congenital disorder|congenital anomalies]] may be observed. In females, no [[axillary hair]] and [[amenorrhea]] are common. | |||
===Laboratory Findings=== | ===Laboratory Findings=== | ||
Laboratory diagnosis consistent with cases of hypogonadism is measuring [[testosterone]] levels, [[Gonadotropins|gonadotropin hormones]] level and the [[semen analysis]] for the male patients. [[Testosterone]] level is low in cases of hypogonadism. [[Gonadotropin]] hormones level differs between the primary hypogonadism and secondary hypogonadism. The gonadotropin hormones are high in the primary causes and low in the secondary causes. | |||
===X ray=== | ===X ray=== | ||
X ray may be performed in cases of hypogonadism only on bones to assess the bone age and the skeletal growth. | [[X-ray]] may be performed in cases of hypogonadism only on [[bones]] to assess the [[bone age]] and the skeletal growth. A pelvic x-ray may be also needed to assess the [[Genitalia|internal genitalia]] and detect any [[Mass|masses]]. | ||
===CT scan=== | ===CT scan=== | ||
There are no CT findings associated with hypogonadism. | There are no [[CT]] findings associated with hypogonadism. | ||
===MRI scan=== | ===MRI scan=== | ||
MRI | [[MRI]] is performed in cases of hypogonadism to evaluate the [[pituitary gland]] and [[hypothalamus]] to detect any [[tumors]] that may cause hypogonadism. It is performed in specific patients who present with [[Visual impairment|visual disturbances]], [[Neurological illness|neurological impairments]] and lab findings suggestive for [[hypopituitarism]]. Possible findings may include empty [[sella turcica]] and [[pituitary adenomas]]. | ||
===Ultrasound=== | ===Ultrasound=== | ||
[[Ultrasound]] may be helpful in females presenting with hypogonadism to evaluate the [[uterus]] or to rule out [[cryptorchidism]] in males. | |||
===Other Diagnostic Studies=== | ===Other Diagnostic Studies=== | ||
There are no other diagnostic studies for hypogonadism. | There are no other [[diagnostic]] studies for hypogonadism. | ||
===Other imaging findings=== | ===Other imaging findings=== | ||
There are no other imaging findings for hypogonadism. | There are no other [[imaging]] findings for hypogonadism. | ||
==Treatment== | ==Treatment== | ||
===Medical Therapy=== | ===Medical Therapy=== | ||
The mainstay of therapy for hypogonadism is the hormonal replacement therapy. | The mainstay of therapy for hypogonadism is the [[Hormone replacement therapy|hormonal replacement therapy]]. Based on the endocrine society clinical guidelines, [[testosterone]] is important for the treatment of hypogonadism. Different regimens include [[Testosterone (injection)|injected]], [[Testosterone (buccal)|buccal]] and [[Testosterone (transdermal)|transdermal testosterone]]. For women, [[estrogen]] replacement therapy is important besides [[testosterone]]. | ||
===Surgery=== | ===Surgery=== | ||
Surgical intervention is not recommended for the management of hypogonadism. However, in some | Surgical intervention is not recommended for the management of hypogonadism. However, in some cases of the hypogonadism which present with high risk of [[malignancy]], [[Gonads|gonadal tissue]] should be surgically removed. This is more important in [[genetic diseases]] like [[Turner syndrome]]. In males, [[orchiectomy]] is indicated if the patient has completely nonfunctioning [[testes]]. | ||
===Prevention=== | ===Prevention=== | ||
There are no established methods for prevention of hypogonadism. | There are no established methods for [[prevention]] of hypogonadism. | ||
==References== | ==References== | ||
Latest revision as of 15:20, 16 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
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 is characterized by high level of the gonadotropin hormones (FSH and LH). Secondary hypogonadism indicates a defect in pituitary gland or hypothalamus and presents with a low level of gonadotropin releasing hormone, FSH, and LH. 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 may cause delayed puberty or infertility, such as Klinefelter syndrome, Kallmann syndrome and cryptorchidism. 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. If hypogonadism left untreated, patients 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 loss of pubic hair. Laboratory evaluation may reveal low testosterone levels and 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.
Historical Perspective
Hypogonadism was first reported by Dr. Maestre de San Juan in a case of small testes and loss of smelling sensation. Dr. Kallmann in 1944 identified this syndrome which was named on him after that. Dr. de Morsier reported various cases of hypogonadism with absent 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.
Pathophysiology
Hypogonadism pathophysiology depends mainly on the deficiency of the testosterone hormone. Testosterone is secreted in response to stimulation from the brain to the hypothalamus which secretes 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 stimulate secretion of estrogen which helps in follicles maturation. Also, estrogen is involved in the ovulation process. GnRH deficiency may lead to decrease of testosterone levels and eventually causing hypogonadism. Genetic mutations have a major role in the development of hypogonadism as well as other factors. There are more than 25 gene mutations participate in the pathogenesis of hypogonadism. Genes that are responsible for Kallmann syndrome include ANOS 1, SOX10, SEMA3A, IL17RD and FEZF1. Other influencing genes are 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. Hypogonadism affects men more than women and its prevalence increases with age.
Risk Factors
Common risk factors in the development of hypogonadism in men are dyslipidemia, obesity, alcohol intake, malignancies and metabolic syndrome. Common risk factors in women include nulliparity and dysmenorrhea. Other risk factors include coronary heart disease, hypertension, heart failure, and smoking.
Screening
According to the endocrine society, screening for hypogonadism is not recommended as it is not cost-effective. Hypogonadism screening may be done in order to diagnose the disease early and provide the appropriate treatment. Screening may be done for men who present with erectile dysfunction, infertility, HIV, 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. The rheumatic autoimmune diseases include rheumatic arthritis and systemic lupus erythematosus. Complications of hypogonadism depend on age and include ambiguous 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 a normal life alongside the appropriate medical therapy.
Diagnosis
History and Symptoms
The most common symptoms of hypogonadism 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 a headache, visual impairment, galactorrhea, and anorexia nervosa.
Physical Examination
Common physical examination findings of hypogonadism include the absence of secondary sexual characteristics in both male and females. In males, pubic hair loss, no beard hair, small testicular size and congenital anomalies may be observed. In females, no axillary hair and amenorrhea are common.
Laboratory Findings
Laboratory diagnosis consistent with cases of hypogonadism is measuring testosterone levels, gonadotropin hormones level and the semen analysis for the male patients. Testosterone level is low in cases of hypogonadism. Gonadotropin hormones level differs between the primary hypogonadism and secondary hypogonadism. The gonadotropin hormones are high in the primary causes and low in the secondary causes.
X ray
X-ray may be performed in cases of hypogonadism only on bones to assess the bone age and the skeletal growth. A 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 is performed in cases of hypogonadism to evaluate the pituitary gland and hypothalamus to detect any tumors that may cause hypogonadism. It is performed in specific patients who present with visual disturbances, neurological impairments and lab findings suggestive for hypopituitarism. Possible findings may include empty sella turcica and pituitary adenomas.
Ultrasound
Ultrasound may be helpful in females presenting with hypogonadism to evaluate the uterus or to rule out cryptorchidism in males.
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. Based on the endocrine society clinical guidelines, testosterone is important for the treatment of hypogonadism. Different regimens include injected, buccal and transdermal testosterone. For women, estrogen replacement therapy is important besides testosterone.
Surgery
Surgical intervention is not recommended for the management of hypogonadism. However, in some cases of the hypogonadism which present with high risk of malignancy, gonadal tissue should be surgically removed. This is more important in genetic diseases like Turner syndrome. In males, orchiectomy is indicated if the patient has completely nonfunctioning testes.
Prevention
There are no established methods for prevention of hypogonadism.