Hypogenitalism: Causes, Symptoms & Treatment

Hypogenitalism represents underdevelopment of the sex organs. This includes both the primary and secondary sexual characteristics. Causes include deficient production of sex hormones as well as their insufficient effectiveness.

What is hypogenitalism?

Hypogenitalism is the insufficient development of primary and secondary sexual characteristics. The focus is on the underdevelopment of the external genitalia. Hypogenitalism is the insufficient development of the primary and secondary sexual characteristics. In this case, the underdevelopment of the external genitalia is in the foreground. In males, only a small penis develops. The scrotum is usually small and smooth. In extreme cases, there is even only a micropenis. In the female, the fallopian tubes and uterus are not fully developed. Both sexes also show incomplete development of secondary sexual characteristics. Hypogenitalism and hypogonadism are closely related. However, the two terms should not be confused with each other. Hypogonadism is the under-functioning of the gonads such as the testes or ovaries, with too few sex hormones being produced. The lack of sex hormones causes the underdevelopment of the sex organs (hypogenitalism). However, hypogenitalism can also have other causes. For example, in some cases, despite normal hormone concentrations, the effectiveness of sex hormones is reduced.

Causes

There are many causes of hypogenitalism. It should be noted that underdevelopment of the sex organs is not a disease in its own right, but only a symptom of an underlying disorder or disease. Often there is a genetic cause. Various syndromes such as Klinefelter syndrome, Turner syndrome, Kallmann syndrome, Prader-Willi syndrome, or Laurence-Moon-Biedl-Bardet syndrome also have hypogenitalism as a symptom. At least twenty different diseases or syndromes can lead to a disorder of genital development. For the most part, these disorders are genetic. They often lead to deficient hormone production via hypogonadism. In pseudohermaphroditism feminus, however, there is a male genotype XY with sufficient production of testosterone. However, due to ineffective receptors for testosterone, it cannot exert its effectiveness. The affected individual is phenotypically female, but without functional female gonads. In some cases, however, male and female sexual characteristics are equally present. This is referred to as hermaphroditism (hermaphrodite). Hypogenitalism can also be idiopathic. In this case, there is an isolated underdevelopment of the genitals without an identifiable cause. Possibly because of the fuzzy definition, there is often a blurring of the line between normal and pathological genital size here. As mentioned above, hypogenitalism is only a symptom of an underlying disorder. It manifests in males as a small infantile penis that does not develop after puberty. Micropenis is said to occur when it does not exceed seven cm in length when erect. In addition, the prostate gland can hardly be felt. Sometimes only a hazelnut-sized lump is palpable. In women, underdeveloped uterus and fallopian tubes are evident. Secondary sexual characteristics are insufficiently developed in both sexes.

Symptoms, complaints, and signs

Additional symptoms depend on the underlying condition. When testosterone deficiency is present, many other symptoms are also present. The requirement for hypogenitalism is that the deficiency of testosterone occurs before puberty. Delayed puberty, small testicles, decreased fertility, muscle loss, female fat distribution, breast development, depression, other psychological abnormalities, and many more are seen. Sometimes hypogenitalism exists without other additional symptoms. When a micropenis occurs, sometimes an intersexual disorder is present, in which both male and female sexual characteristics are present. However, adolescents in particular often suffer from psychological impairment. They often develop feelings of shame and shut themselves off from their peers. In rare cases, they even develop anxiety disorders or depression.As a rule, affected individuals are not impaired by the disorder in terms of their ability to have an erection or ejaculate. In most cases, a normal sex life is possible for the affected person. Sometimes, however, positions and methods have to be adapted accordingly. Procreative power is also unrestricted.

Diagnosis and course of the disease

To diagnose the underlying disorder in hypogenitalism, the concentration of sex hormones is first determined. Depending on the presenting symptoms, genetic testing may still be performed. The spectrum of syndromes in question is very large, so that differential diagnoses for various diseases are necessary.

Complications

Hypogenitalism primarily causes discomfort to the sexual organs and their underdevelopment. This may cause not only physical but also psychological discomfort in the patient. In most cases, the amount of sexual hormones in the patient is low, so that various behavioral disorders and growth disorders develop as a result. It is not uncommon for depression and other psychological complaints to occur. Those affected are often ashamed of the disease and its symptoms and thus suffer from inferiority complexes. The quality of life is also extremely limited by the disease. In most cases, hypogenitalism is treated with hormone therapy and no further complications occur. If the symptoms do not disappear, the underlying disease is diagnosed. Complications may arise if no treatment is initiated and muscle wasting or anemia occurs. Furthermore, in severe cases, the patient may become impotent. However, if hypogenitalism is mild, treatment is not necessary in most cases if the symptoms do not particularly bother the patient. Life expectancy is not reduced with early and proper treatment.

When should you see a doctor?

If physical developmental delays occur in children during the transition to puberty, a checkup with a physician should be performed. Also of concern is a sudden early stop in the development of the reproductive organs. Reduced breast development or small testicles should be presented to a doctor and examined. If there are menstrual cramps, irregularities in menstruation or no bleeding, a doctor should be consulted. If there are sexual dysfunctions, a loss of libido, or visual abnormalities of the reproductive organs, a doctor’s visit is necessary. Emotional problems, anxiety or shame should be discussed with a doctor or therapist. Depressive phases, a persistently depressed mood, behavioral abnormalities or a loss of zest for life are signs for which the affected person needs help and support. A change in personality is considered a cause for concern and must be assessed by a physician. Increased partnership conflicts, isolation or unusual social behavior should be clarified by a physician. An unfulfilled desire for pregnancy, an incomprehensible reduction in musculature or an unnatural distribution of fat on the body should lead to further medical examinations. A clarification of the cause is necessary so that no additional diseases develop or the quality of life of the affected person decreases. Nodule formations in the area of the genital organs should be examined and treated as soon as possible.

Treatment and therapy

If hypogenitalism is caused by a deficiency of sex hormones, hormone therapy is an option. In male patients, testosterone can be supplied via injections or in the form of testosterone patches. Women receive female sex hormones such as estradiol, ethinyl estradiol or the artificial sex hormone chlormadinone. The administration of sex hormones causes subsequent development of primary and secondary sexual characteristics. However, it also depends on what the underlying disease is. In Klinefelter syndrome, for example, there is a numerical chromosomal aberration in the sex chromosomes. Thus, there is status XXY. These are male patients with a primary testosterone deficiency. In this case, testosterone administration causes a clear improvement in the quality of life.In addition to further formation of primary sexual characteristics, hormone treatment also acts against existing anemia, muscle wasting, osteoporosis, impotence and depression. Some disorders are also caused by the hormonal regulatory system. Here, there is no isolated deficiency of sex hormones. For example, the pituitary gland as a central endocrine organ may be affected. In these cases, the cause must be uncovered and treated. Hormone replacement therapy involving other hormones may also be necessary. However, hypogenitalism does not always require treatment. In idiopathic hypogenitalism, there may well be a question at times as to whether the size of the sex organ in this case is merely outside the norm established by definition.

Prevention

There is no prevention from hypogenitalism. In most cases, hormonal disorders are present, which are often genetic. Basically, more than twenty different diseases and syndromes can lead to underdevelopment of the reproductive organs. Furthermore, it should also be noted that hypogenitalism is usually only a symptom of an underlying disease.

Follow-up

In hypogenitalism, follow-up care in the medical sense is not necessary purely because of the weakly expressed sex organs. These do not imply the need for treatment, but can be stimulated to grow thanks to hormone therapy. This usually has to be done for the rest of the patient’s life, which may entail regular checks and, if necessary, an adjustment of the therapy. However, the many different clinical pictures and syndromes of which hypogenitalism can be a symptom may force follow-up. For example, the necessary follow-up after surgery in people with trisomy 21, as organ malformations are common, or the follow-up in people with Prader-Willi syndrome. In the latter, diabetes and obesity are common, along with all the complications. Hypogenitalism can also place a heavy psychological burden on those affected, which can lead to self-injurious behavior. Psychological disorders and subsequent therapy sometimes make follow-up care in the form of further discussions or other therapies necessary. Hypogonadism, which is very often causative for hypogenitalism, is more often associated with osteoporosis. From this increased risk for fractures, it can also be deduced that follow-up care for fractures is relevant. However, this does not affect all people affected by hypogonadism.

What you can do yourself

The means of self-help are limited in hypogenitalism. Affected people always depend on medical examination and therapy to defeat the symptoms of this condition. However, further treatment of hypogenitalism depends very much on the underlying disease, but is usually carried out with the help of hormones. In most cases, medical treatment completely limits the symptoms, allowing patients to lead ordinary daily lives. Above all, early diagnosis of the disease leads to rapid treatment without complications. Patients are only dependent on regular intake of hormones. If the disease is diagnosed late, it can lead to disturbances in the child’s development. These disturbances must be compensated for by intensive therapy. Often the parents can also support their child accordingly in order to avoid complaints in adulthood. In the case of psychological complaints or inferiority complexes, discussions with a psychologist or therapist can also help. Talks with family members or friends are also suitable. Through contact with other sufferers of hypogenitalism, helpful information can be gathered for everyday life.