Generality
The hermaphrodite is a person who presents, from birth, both male and female sexual characteristics.
- The ovarian and testicular tissues can be found in two distinct gonads (ovary and testicle), or they can be combined in the same organ, called ovotestis .
- As for the external aspect, instead, the hermaphrodite can have very different characteristics: purely female, ambiguous or purely male.
- Some individuals have male genetic sex (XY), but develop female external genitalia, giving rise to a man with the appearance of a woman ( male pseudohermaphrodite ).
- Others are of feminine genetic sex (XX), but have external genitals of more or less masculine forms: the result is a woman with the appearance of a man ( female pseudohermaphrodite ).
- True hermaphrodites, on the other hand, have both XX cells and XY cells; this characteristic makes them genetic chimeras (note: pseudohermaphrodites have a single genetic sex, which does not correspond to phenotypic sex, however).
In the hermaphrodite there is also the production of both male and female sex hormones, which lead to the development of secondary characters of both genders, with variable aspects depending on the prevalence of ovarian and testicular tissue.
Hermaphroditism can be treated with surgery and hormonal therapies . These interventions aim to emphasize functional sexual characteristics.
The criteria for surgical correction must be based, in particular, on the prevalence of external genitalia, on the formation of internal ones and on the ease of reconstruction in favor of one or another sexual line, in agreement with the hermaphrodite's parents.
Premise: when and why do the two sexes differ?
The sex assignment of a newborn is traditionally made at birth, based on the obvious shape of the external genitalia. This is the phenotypic sex of the individual (ie the "visible" one), which must be distinguished from genetic sex, since, in some rare cases, there is no correspondence between them.
Normally, the sequence of processes that take place at an embryonic level guarantees the determination of genetic sex, followed by the differentiation of the gonads (in ovaries and testicles) and by the definition of a phenotypic character of the same type . However, there are exceptions to this rule (as happens, for example, in the case of the hermaphrodite).
GENETIC SEX
The determination of sex is the phenomenon due to the appearance of XX or XY chromosomes in the zygote.
Sexual differentiation is, instead, the process that leads to the formation of masculine or feminine characteristics in the components of the genital apparatus : gonads (ovaries and testicles), genital tracts, external genitalia and germ cells (destined to evolve into gametes, such as sperm and egg cells).
Around the 30th day from conception, at the embryonic stage of blastocysts, a draft called genital crest forms in the dorsal part of the coelomic cavity.
At this level, identical tubular formations appear:
- Dossiers of Wolff : in the presence of the XY kit (male), they will give rise to the spermatic ducts and the epididymis (in the woman, instead, Wolff's ducts become atrophied). The primitive gonad evolves in the testicle;
- Ducts of Müller : under the influence of the genome XX (female) they turn into tubas, uterus and vagina. The primitive gonad will become the ovary.
On the 90th day there is already a clear sexual differentiation due to the determination of the chromosomal structure.
In the fetal period, from the 90th to the 280th day of pregnancy, on the basis of specific genetic directives develop the primary sexual characteristics : ovaries, uterus and vagina in women; testicles and penis in humans. At birth, in general, sex is well differentiated.
HORMONAL OR PHENOTYPICAL SEX
At about 10-12 years, that is in the pubertal period, there is the maturation of the gonads and the endocrine system (especially at the level of the pituitary-adrenal axis). The result is the outward manifestations of masculinity and femininity ( secondary sexual characteristics ), such as the body structure, the development of the breasts, the distribution of hair on the body and the timbre of the voice. In the female appears the ovulatory cycle with the menarche, while in the male there are the first nocturnal pollutions and the appearance of hair on the face. These external characteristics are not determined directly by the Y chromosome, but by genes distributed on autosomes and on the X chromosome, which control the action of hormones, such as testosterone and estrogens .
Causes
Hermaphroditism is a rare phenomenon caused by an anomaly in the processes of differentiation of the genitals, which occur during embryogenesis. This anomaly determines the simultaneous development of ovarian and testicular tissue, in subjects with a normal chromosomal constitution (respectively XY if male and XX if female), a XX / XY chimerism or XY / XXY mosaicism.
This results in a highly variable clinical syndrome : the hermaphrodite may have characteristics ranging from external genitals that simulate normal male or female structures, to any degree of ambiguity, such as the presence of some anatomical attributes of both sexes.
The hermaphroditism can be associated with defects of chromosomal disjunction, mostly maternal, and mutations of the SRY gene, which encodes a protein implicated in the primary definition of sex, ie in the determination of the type of gametes produced by the individual, and in the determination of the organs appointed for this purpose (note: in the presence of this protein, an embryo develops the testes that produce sperm, while in the absence of the same one observes the ovaries).
Other causes of hermaphroditism may include virilizing alterations linked to the endocrine system, such as in the case of an excessive exposure of a female fetus to androgens (congenital adrenal hyperplasia) and, on the contrary, those that cause insensitivity to hormones male (as in Morris syndrome).
True Hermaphrodite
True hermaphroditism is a very rare condition, characterized by the simultaneous presence of the testicle and the ovary, or by the existence of an organ made up of ovarian tissue and testicular tissue in the same individual (ovotestis).
The phenotype of the true hermaphrodite is masculine, feminine or ambiguous (ie it presents mixed somatic characters); if a penis is present, this is very small, but at puberty there may be the appearance of menstruation due to the presence of a uterus and an ovary.
pseudohermaphroditism
Pseudohermaphroditism is a condition characterized by respectively male or female genetic makeup and gonads of a single sex (the individual possesses testicles or ovaries respectively), but in which external genitalia with a poorly defined appearance and typical secondary characters of sex are observed opposite to. Pseudohermaphroditism is mainly caused by hormonal imbalances affecting the phase of prenatal development .
Some curiosity
- Hermaphroditism is found as a normal condition in many animals (including earthworms, oysters, snails and some crustaceans), as well as in many plants .
- The term "hermaphroditism" derives from the Greek myth of Hermaphroditus, son of Hermes and Aphrodite, who possessed physical characteristics of both sexes.
Symptoms and Events
We distinguish forms of hermaphroditism with ovarian tissue in one gonad and the testicular in the other, and situations in which there is the presence of testicular and ovarian tissue in the same gonad (condition defined ovotestis ), with different possible combinations.
In particular, the hermaphrodite can present gonads of three types:
- Testicular on one side, ovarian on the other ;
- Ovotestis on each side ;
- Ovotestis on one side, testicular or ovarian on the other .
The ovotestis corresponds to the primitive sexual glands: in fact, the embryo contains a hint of both gonads (male and female) and, during development, one of these two sexual structures atrophies. In the hermaphrodite, on the other hand, both of these sexual sketches can remain in the primitive stage without further differentiation.
The appearance of the external genital organs can be varied: in some cases, these appear decidedly masculine or feminine; other times, however, they are ambiguous and cannot be exactly classified as belonging to one or the other sex.
In true hermaphrodites, the penis is small (micropenis) and the urethra opens up in an anomalous position (hypospadias); the scrotum does not contain the testicles and is divided into two parts that make it look like the large female lips. Usually, the hermaphrodite has a uterus, a vagina and a urogenital sinus (ie the vagina that opens together with the urethra). In many cases, a prostate is also observed.
The phenotype of the hermaphrodite can be feminine or masculine, with signs of virilism in the first case and feminine aspects in the second. At the time of puberty, under the stimulus of sex hormones, individuals who have been considered men on the basis of the approximately masculine conformation of their external genitalia, experience blood loss in correspondence with normal female menstrual cycles. In addition, about half of the cases develop breasts ( gynecomastia ).
The presence of testicular tissue and rudiments of spermatic pathways can be associated with the production of fertile sperm; however, this occurrence is rare, unlike the appearance of ovulation.
Psychic characters
The hermaphrodite usually presents a well-defined psychic orientation in a male or female sense, depending on the sex that is attributed to the patient at the time of birth, and of the education received and from the social environment where the growth takes place.
Possible complications
The hermaphrodite presents a higher risk of developing neoplastic processes (including abdominal tumors ), as well as often showing infertility and amenorrhea . Furthermore, in these patients blood emission with urine ( hematuria ), failure to descend the testicles into the scrotal sac ( criptorchidism ), inguinal hernia and abdominal pain due to alterations of the uterine mucosa ( endometriosis ) are frequently observed.
Diagnosis
At birth, the external genital organs of the hermaphrodite are often not well defined, therefore the simple external examination of the subject does not succeed in establishing sex with certainty. Therefore, when malformations are found in the newborn, it is possible to perform examinations such as karyotype analysis and radiological and clinical investigations to establish the genetic sex of the subject.
The diagnosis of hermaphroditism can be confirmed by histological analysis of the gonads after biopsy sampling, as there is no typical hormonal kit useful for defining the clinical picture.
Treatment
The treatment of hermaphroditism involves very delicate approaches, both for the hermaphrodite and for family members, especially in cases where the problem of changing social sex arises.
Once a diagnosis has been made at birth, in particular, the hermaphrodite can be treated taking into account the external physical appearance, the structure of the internal genital organs and the psychological implications that these sexual characteristics could have in growth. This allows doctors to choose the sex that is most suitable for the specific case, in agreement with the parents.
To ensure normal body development, it is therefore necessary to proceed with surgical ablation of one of the two gonads, leaving the organs of the chosen sex.
In puberty, the administration of hormonal therapies can be associated, especially when it is desired to favor the development of the udders and of a female type of hermaphrodite. In some cases, then, the external genitalia must be corrected with plastic surgery .
If it is not possible to make a diagnosis at birth, instead, the therapeutic approach must take into account the education provided to the hermaphrodite. In this regard, it should be remembered that psychic sex is determined very quickly by the environment or by the habits of the subject, generally before the age of 2 and a half years.
Although this is an anomaly that does not compromise the life of the subject, if the change in social sex is not accompanied by a satisfaction of the subject in his new state, the correction of hermaphroditism can cause serious psychic trauma.
To prevent this occurrence, during growth, it is possible to strengthen the sex chosen by the hermaphrodite with surgical ablation of the organs that are foreign to it and, if necessary, with hormonal treatments.
