Micropenis

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q55.6 Other congenital malformations of the penis
- hypoplasia of the penis
ICD-10 online (WHO version 2019)
Micropenis
Compared to an oversized clitoris ( clitoromegaly )

Micropenis or microphallus is the medical name for an anatomically unusually small penis . The opposite is known as the macropenis . A micropenis is a form of hypogenitalism (underdevelopment of the sexual organs).

The micropenis is counted among the penile diseases or intersex syndromes . It can occur idiopathically , i.e. without a known cause, and - which is more often the case - as a symptom of various syndromes . Those affected were often referred to as intersex people in the past . However, this term should no longer be used because it can be perceived as discriminatory and is viewed as too “nebulous” by experts. The description as a "disorder of sex development" ( Engl. Disorder of sex development shortly DSD) is preferable.

The transition from the penis to the micropenis and megaloclitoris ( clitoromegaly , also clitoral hypertrophy, a penis-like clitoris) to the clitoris is fluid.

definition

In adults, the term micropenis is used when the erect or stretched length is less than 7 cm. In children or adolescents in puberty, the assessment is based on age using diagrams . During puberty, the penis undergoes anatomical growth and functional maturation. A more objective definition for a micropenis that takes into account the respective age of the patient therefore takes into account the standard deviation of the respective mean age value . One speaks of a micropenis if the penis length is 2.5 standard deviations (= 2.5 σ) below the mean. Here, the length of which is the dorsal surface ( "penis back") from the symphysis pubis ( pubic symphysis ) to the tip of the penis measured. When classifying as a micropenis, ethnic characteristics should be taken into account.

Incidence and prevalence

Few local data from studies are available for the incidence and prevalence . According to the Network on Psychosexual Differentiation , the incidence of a micropenis is less than 2%. The authors attribute the increase observed in recent years to overweight patients with a so-called buried penis , which was wrongly diagnosed as a micropenis.

In Colombia , the incidence is 19: 100,000 people, while, for example, the incidence of hypospadias in the same study is 10 times higher.

The observed in recent years, significant increase in cases in newborns is considered by some authors to the influence of exogenous substances such as androgen - or estrogen - mimics returned.

diagnosis

Diagnosis and differentiation from other related malformations and syndromes should be made immediately after birth. An endocrinologist and a geneticist are usually called in to make the diagnosis .

The pseudo-micropenis is to be distinguished from the micropenis . While the penis is anatomically too small in the “real” micropenis, the different shapes of the pseudo-micropenes show a normal length when palpated . When making a diagnosis in children, it must be taken into account that the penis can be covered by prepubic fat ( embedded penis ). This rare disease of the penis has other causes. The so-called buried penis ("buried penis"), the concealed penis ("hidden penis"), wrapped penis. ( Palmure ), trapped penis (a penis caught postoperatively) and mega prepuce are also to be distinguished from the micropenis.

Furthermore, a micropenis can also be misinterpreted as a megaloclitoris (clitoromegaly), which is an oversized clitoris, during the first examination.

A diagnosis is possible prenatally using sonography (ultrasound examination).

A micropenis is very often an early sign of inherited pituitary insufficiency . There is also a relationship with the X-chromosomal congenital adrenal hypoplasia ( DAX1 mutation) in boys with a anencephaly or pituitary - agenesis (the absence of the pituitary gland).

Differential diagnosis

  • A "buried" Penis ( Buried penis )

  • A "captive" Penis ( trapped penis )

  • A penile webbed skin (skin connection between the scrotum and the underside of the penis , webbed penis ), mild form

  • A penile webbing, very pronounced shape

etiology

The causes ( etiology ) that lead to a micropenis can be divided into four groups:

  • Hypogonadotropic hypogonadism : The pituitary gland (pituitary gland) or the hypothalamus (a region in the diencephalon) produce too few hormones to stimulate the testes , so that they in turn produce too little of the hormone testosterone and release it into the body. Growth hormones , such as somatotropin , play an important role in stimulating testosterone production.
  • Hypergonadotropic hypogonadism : An immediate dysfunction of the testes leads to an insufficient production of testosterone in the testes.
  • Partial or incomplete androgen resistance ( partial androgen insensitivity syndrome , PAIS fourth degree): The testosterone released by the testes does not or only partially works due to a, for example genetically determined, receptor defect in the target cells, which is why the testosterone remains largely ineffective on the target organ.
  • Idiopathic micropenis: No cause for the symptom micropenis can be determined.

In the first three cases, a micropenis arises from the failure of androgens to stimulate growth .

Statistically speaking, 50% of the micropenes are due to hypogonadotropic hypogonadism, 25% to hypergonadotropic hypogonadism and about 15% to androgen resistance of the target organ (penis).

In the case of prenatal (before birth) androgen deficiency in the last trimester (the last 13 weeks of pregnancy), the probability of a micropenis in a male newborn is very high. In addition, there may be a disorder of testicular descent ( Maldescensus testis ). While an androgen deficiency in the 8th to 14th week of pregnancy can lead to disruptions in the sex differentiation of the fetus (intersexuality) with micropenis, an androgen deficiency that does not occur until puberty only leads to disturbances in the development of the secondary male sexual characteristics (such as pubic hair and broken voice).

Boys who are growth hormone deficient have a normal penis size at birth. In these cases, the micropenis develops - together with a greatly reduced body stature - over time. In contrast, growth hormone resistance patients have a micropenis and small stature from birth.

In a 2002/03 study in Palembang ( Indonesia ) with 2,241 male kindergarten children aged 5 to 6 years it was found that overweight boys are about twice as likely to develop a micropenis. The affected patients - especially in childhood and adolescence - are often exposed to teasing. The intelligence of patients affected by a micropenis is normally developed.

Genetic causes

About 20 different diseases and syndromes are associated with the pathological picture of a micropenis. In almost all cases, the micropenis is just one symptom of many. All of these diseases have a direct or indirect negative impact on the androgenic hormone balance.

A micropenis can occur in CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency ( adrenogenital syndrome type II), Pallister Hall syndrome , Juberg-Marsidi syndrome or short-rib polydactyly syndromes .

Partial androgen resistance

The androgen receptor is a transcription factor . Depending on the type of mutation, a broad spectrum of syndromes can develop, from minimal androgen resistance to partial to complete androgen resistance. Partial androgen resistance, also known as Reifenstein's syndrome, causes, among other things, a micropenis in affected patients.

Robinow syndrome

The autosomal - dominant , rare autosomal recessive inherited malformation syndrome has a micro penis as one of the symptoms in boys.

Prader-Willi Syndrome

A microdeletion or a uniparental disomy on chromosome 15 gene locus q11-q13 leads to a Prader-Willi syndrome . The resulting lack of hormone release in the hypothalamus causes, among other things, an underdevelopment of the sexual organs (hypogenitalism), such as a micropenis, in boys.

Börjeson-Forssman-Lehmann syndrome

The Borjeson-Forssman-Lehmann syndrome is a X-linked -rezessiv inherited disease, the cause of mutations on the PHF6 gene are. The gene is located on the X chromosome gene locus q26-27. One of the symptoms seen in this disease is a micropenis.

Laurence-Moon-Biedl-Bardet syndrome

Even with this autosomal recessive hereditary disease, one of the possible symptoms is a micropenis. About 50% of the affected children come from incestuous relationships.

MORM syndrome

The MORM syndrome ( m ental retardation, truncal o besity, r etinal dystrophy and m icropenis ), a rare autosomal recessive genetic disease , shows not only intellectual deficit , truncal obesity and retinal dystrophy , also the symptom of a micro penis. The gene locus is on chromosome 9q 34.

Smith-Lemli-Opitz syndrome

The Smith-Lemli-Opitz syndrome is a congenital autosomal recessive inheritable malformation syndrome. The DHCR7 gene on chromosome 7 locus q32.1 can, depending on the extent of the mutation, also contribute to the formation of a micropenis.

Kallmann syndrome

The Kallmann syndrome is a special form of hypogonadism (underactive gonads). The cause of the Kallmann syndrome can be various mutations on chromosomes 3 (cal 4), 8 (cal 2) 20 (cal 3) and X (cal 1), all of which are a reduced production of gonadotropins (hormones that the gonads stimulate) (hypogonadotropic hypogonadism). This reduces the testosterone production in the testes accordingly.

Anarchy

The bilateral absence of the testes (bilateral anorchy ) causes a lack of testosterone, which among other things induces a micropenis.

SMMCI

In the syndrome of the single maxillary central incisor (SMMCI), the symptom of a micropeniss occurs in about 10% of those affected. The etiology of this syndrome is unknown. There may be an association with a mutation on chromosome 7 locus q36 affecting the SHH gene.

CHARGE syndrome

The CHARGE syndrome caused by a microdeletion in the CHD7 gene on chromosome 8 gene locus q12 is variable in its symptoms. Underdevelopment of the testicles or a micropenis is often observed in boys.

Klinefelter Syndrome

Klinefelter syndrome is a numerical chromosomal aberration of the sex chromosomes that occurs only in boys and men. In some of those affected, the lack of androgenic hormones causes a micropenis to form.

Microcephaly - micropenis - cerebral spasms

Microcephaly - micropenis - cerebral cramps is an extremely rare, presumably autosomal-dominant or X-linked dominant inherited disease, of which only four cases have been described worldwide.

Hypopituitarism - micropenis - cleft lip and palate

The hypopituitarism - micropenis - cleft lip and palate is a very rare syndrome characterized by a spontaneous mutation is identified.

Leydig cell hypoplasia

The Leydig cells in the testes are responsible for the production of testosterone. From the 8th week of pregnancy to the 5th month of pregnancy, they produce testosterone for the development of the genital tract and external genitalia. They are only activated again at the beginning of puberty. In the very rare, autosomal recessive inherited Leydig cell hypoplasia , testosterone production in the testes is disturbed. The cause is an inactivating receptor mutation (LHCGR) on chromosome 2 gene locus p21.

5α-reductase

The enzyme 5α-reductase converts the sex hormone testosterone into the biologically more potent dihydrotestosterone (DHT). In many intersex syndromes, the concentration of 5α-reductase correlates directly with the length of the penis. In contrast, it only plays a minimal role in the etiology of the micropenis.

Exogenous causes

In the animal model , the administration of anti-androgenic agents such as finasteride can induce a micropenis. The administration of 5α-reductase inhibitors during pregnancy causes genital anomalies such as hypospadias and micropenis in monkeys.

Since some studies have shown that the prevalence of micropenes is increasing significantly in many countries, some authors assume that exogenous agents ( endocrine disruptors ), such as dioxins , are the cause of this phenomenon.

In retrospective studies it was found that patients who were administered the nonsteroidal selective estrogen receptor modulator (SERM) diethylstilbestrol (DES) during pregnancy had a micropenis in 1.5% of the boy births, while the value was 0 in the control group % was.

therapy

From the 1950s onwards, it was common practice in Germany to remove the micropenis from 1.5 to 2.5 cm in length as a "mutation" or to cut it back to the size of a clitoris. The parents of affected children were advised to raise them as girls. It was also assumed that patients with a micropenis could not lead a fulfilling sex life and would be exposed to constant teasing. In many cases, a female gender assignment with penile amputation, removal of the testicles ( orchiectomy ), creation of a neovagina and the administration of feminizing estrogens during puberty was recommended.

These approaches are increasingly rejected in specialist circles. Many medical professionals and psychologists consider gender identity to be completely independent of an adequately or inadequately developed sexual organ.

Hormone therapy

The treatment with androgenic hormones - such as beginning in early childhood administration of testosterone - is now the drug of choice for treatment of a micro penis.

As part of a study, twelve postpuberal patients were interviewed in whom the primary diagnosis of micropenis was made in infancy . All patients were brought up as men and were given chorione gonadotropins , testosterone or cortisone . All patients reportedly were heterosexual and had both erections and orgasms . Seven of them were married and had normal vaginal intercourse . One had a child.

In a study with eight patients, the intramuscular administration of testosterone at four-week intervals between the ages of 0 and 14 years resulted in adequate penis lengths, erections and a male gender identity. During puberty, the dose was quadrupled or eightfold. The adult patients achieved a mean penis length of 10.3 cm. Six of the eight men were sexually active and all felt themselves to be men and displayed the corresponding psychosocial behavior. The authors of the studies conclude that there are no clinical, psychological or physiological indications for sex reassignment of affected boys in girls. Drug treatment of the micropenis is the preferred method of treatment today for idiopathic or teratogenic causes.

In the animal model of rats, it was found that if testosterone was administered too early, the penis developed early, but the penis size was reduced after sexual maturity.

In addition to the administration of testosterone, for example in the form of testosterone propionate or testosterone enanthate, the more potent dihydrotestosterone is sometimes used.

surgery

A number of sex-correcting operations have been described in the literature. With the help of phalloplasty , for example, it is possible in adults to create a largely normal-sized penis from a micropenis.

One study looked at the sexual satisfaction of 18 people who had a congenital micropenis. Of these, 13 grew up as boys and 5, after an appropriate operation, as girls. About half of the men were dissatisfied with their genitals despite having erections. Of the six patients raised as girls, four were dissatisfied with the appearance of their genitals. Neither person was in a partnership. Two people who had their megaloclitoris / micropenis removed said they had no sexual interests whatsoever.

In some cases, what appeared to be an operation on micropenes that were not. They were somewhat hidden in a crack between the scrotum .

literature

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  65. ↑ N. lumens include: Phalloplasty: a valuable treatment for males with penile insufficiency. In: Urology. Volume 71, 2008, pp. 272-276. PMID 18308099
  66. ↑ ABWisniewski et al .: Congenital micropenis: long-term medical, surgical and psychosexual follow-up of individuals raised male or female. In: Horm Res. Volume 56, 2001, pp. 3-11. PMID 11815721
  67. ↑ C. Lang: Intersexuality. ISBN 3-593-38223-7 , p. 114.

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