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Causes, Diagnosis And Therapy Of Hermaphroditism (Intersex) And Gonadal Functions In The Female

Updated on February 17, 2014


testicular feminization
testicular feminization | Source

A General Overview

In the true sense, intersex signifies the presence of intersexual genitalia. However, abnormalities of sexual differentiation may involve the genetic, phenotypic or gender sex. Intersex is classified into the following categories.

  1. True hermaphroditism: abnormal gonadal development with the presence of ovarian and testicular tissue leading on to abnormal genitalia.
  2. Male pseudohermaphroditism- abnormal genital development in the presence of normal testis (46 XY).
  3. Female pseudohermaphroditism- abnormal genital development in the presence of normal ovaries (46 XX).
  4. Acquired forms of intersex- hirsuitism and virilism in women, feminization and gynecomastia in males, psychosexual disorders.

True hermaphroditism: In this condition, the gonads consist of an ovary and a testis of ovotestis and this is characterized by varied degress of defective masculinisation. The external genitalia are intersexual. Common abnormalities include hypospadias, incomplete labioscrotal fusion, urogenital sinus and inguinal hernia containing a uterus. The internal genitalia usually show both male and female characteristics, the genital passages also show abnormalities.

The majority may show feminine breast development and menstruation. Secondary male or female sexual characters develop at puberty, when cyclic menstruation may develop. Chromosomal analysis reveals the common karyotypes as 46 XX and 46 XY mosaicism, i.e the presence of two or more cell types containing different chromosomal patterns.

Pseudohermaphroditism: In pseudohermaphroditism, the gonadal sex is at variance with the genital sex. The terms male or female denote the corresponding gonadal sex which is also the genetic sex. Thus, in male pseudohermaphroditism, the gonads are exclusively testes with XY karyotype, but phenotypic characteristics are to varying degrees female (failure of virilisation). Several conditions may lead to this condition.

Female Pseudohermaphroditism

In this condition, the gonad is an ovary and the karyotype is XX. Varying degrees of virilisation of external organs may be present. Ambiguity of external influence. Often there is no abnormality of internal genital development or functional capacity of the ovaries. The uterus, tubes and ovaries may be normally present and reproductive function may become possible after suitable correction of the external genitalia which are masculine. Several causes may lead to female pseudohermaphroditism.

Diagnosis: When the external genitalia are ambiguous in the newborn or later in life, the problem of intersex should be considered. Several investigations may be necessary to clarify the position regarding the genital state, gonadal relations, chromosomal pattern and others. These have to be undertaken by specialized teams dealing with such problems.

Therapy: It is preferable to investigate these cases in the first year of life so that the sex of rearing the child can be assigned before the second year. Therapy is based on thorough clinical, psychological and genetic analysis. In female pseudohermaphroditism, the external genitalia should be surgically corrected during the first year of life. In make pseudohermaphroditism and intersexual genitalia, sex is assigned according to the state of external genitalia. Prolonged therapy may be necessary to achieve reasonably satisfactory results. Therapy includes hormone supplementation, surgical correction, and psychosocial rehabilitation.

Female Pseudohermaphroditism


Gonadal Function In The Female

Ovarian hormones: Estrogens are hormones which stimulate sexual heat (estrus) in animals. Major estrogens produced by the ovary are estradiol and oestrone. The former is the main and more powerful hormone. Estrogens are inactivated by the liver and several metabolities are excreted in urine and bile as the conjugated products.

Actions of estrogens: Estrogens bring about pubertal changes occurring in females. They are responsible for the development of breasts, formation of the feminine body contour, proliferation of uterine endometrium, vaginal keratinisation, and epiphyseal closure.

Progrestogens: These are substances which prepare the uterus for reception and development of the fertilized ovum. The corpus luteum does this function normally and its main secretion is progesterones with high potency are available for therapeutic use.

Action of progestogens: Progesterone makes the endometrial glands coild and secretory (secretory phase). They are prepared for nidation of the ovum. The rise of temperature at ovulation is mediated by progesterone. Withdrawal of progesterone results in menstrual bleeding.

Clinically, ovarian function can be assessed from the development and maintenance of breasts and the internal and external genitalia. Manifestations of hypofunction of the ovaries include delay in sexual development, menstrual irregularities and disorders of ovulation. Several conditions give rise to such a clinical picture. These include primary ovarian diseases. Hypothalamo-pituitary abnormalities, unresponsiveness of the target organs, systemic diseases and gonadal dysfunction occurring in other endocrine diseases.

On a final note, investigations include: determination of levels of FSH/LH and ovarian hormones; study of the effect of ovarian hormones on vaginal epithelium (cornification), cervical mucus and endometrium (by curettage); and tests of ovulation such as measurement of basal body temperature which goes up at the time of ovulation.

© 2014 Funom Theophilus Makama


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