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Ambiguous genitalia

Contents 1 Ambiguous genitalia 2 Anatomy 3 Pathophysiology 4 Management 5 See also 6 Technical meaning 7 Forms of male pseudohermaphroditism 8 Controversy about usage and alternative terms 9 Origin of the term 10 Medical usage

[edit] Ambiguous genitalia

In medicine or biology, the genitalia of a newborn are described as ambiguous when the visible anatomic structure appears somewhat between normal male and normal female. Ambiguity of the genitalia comprises a subset of congenital anomalies of the genitalia. Most cases of ambiguous genitalia are due to intersex conditions, but not all intersex conditions result in ambiguous genitalia. This article is a brief overview of the causes and medical management of ambiguity of the genitalia in human beings. #mig_2002

[edit] Anatomy

See sexual differentiation for a review of the internal and external changes in male and female fetuses that result in normal male and female genital anatomy. The structure of the external genitalia is primarily the result of the degree of androgen effect. Each of the following structures can be affected, with the range of appearance largely determined by the magnitude of the androgen effect

• The phallus can be as large as a normal penis, as small as a normal clitoris, or intermediate in size. In a normal full-term newborn male the phallus is typically cm long and cm in diameter. In a full-term newborn female the clitoris is typically cm.
• The urethra may open on the perineum (as in normal females) or may open at the tip of the phallus (as in most males); it may or may not be connected with the urogenital opening.
• The labioscrotal folds may be thinned and rugated like normal scrotal skin, or may be only partially fused. The mildest degree of partial midline fusion of the perineum in a girl is referred to as posterior labial fusion. #wis_2001
• The perineum may be fused in the midline or may have a urogenital opening of any size up that of a normal vaginal orifice. The vagina may be connected internally to a cervix and uterus, or may end blindly, or may be nothing more than a shallow perineal indentation. In normal males the midline is completely fused from the urethra on the tip of the phallus to the anus, and usually viseble as a thin line of fused skin termed the median raphe. In normal females, there is a perineal opening, termed the vaginal introitus, between the ventral base of the phallus and the anus. A similar median raphe can usually be seen from the posterior junction of the labia to the anus.

Internal anatomy, especially the presence or absence of gonads (ovaries or testes) and uterus often cannot be determined by the appearance of the external genitalia.

In a strict sense, ambiguous genitalia refers only to the spectrum of congenital anomalies of the genitalia that result from excessive or deficient androgen effect. A variety of other birth defects of the perineum and genitalia unrelated to hormone effects are known.

[edit] Pathophysiology

The process of differentiation of the external genitalia depends primarily on the action of androgens. Thus most cases of ambiguity arise when excessive amounts of androgens are present in a genetically female fetus, or when a genetically male fetus has inadequate amounts of androgens or impairment of its actions (e.g., androgen insensitivity syndrome.

[edit] Management

1. initial investigation and tentative diagnosis 2. assignment 3. detailed diagnosis 4. medical management 5. surgery 6. other support

Congenital anomaly of the genitalia is a medical term describing a physical abnormality of the male or female internal or external genitalia present at birth. This is a broad category of conditions. Some are common and some are rare. Some result from excessive or deficient androgen effect, others result from teratogenic effects, or are associated with anomalies of other parts of the body in a recognizable pattern (i.e., a syndrome). ambiguous genitalia undescended testes hypospadias chordee microphallus clitoromegaly aphallia diphallia epispadias cloacal exstrophy bladder exstrophy imperforate hymen mullerian agenesis

(redirect from birth defect of the genitalia).

This article is a very brief overview, made to support links from some other articles. It refers to a rewritten and corrected intersex article which has not yet been posted, and will deal with the management issues of popular interest in much more detail, including changes in assignment and surgery recommendations, and long term postneonatal issues. Stay tuned. http://pediatrics.aappublications.org/cgi/content/full/110/3/e32

or

http://www.transgenderzone.com/library/hl/pdf/31.pdf for link to outcome survey of xy jhm pts

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Sex-linked genes, traits, and diseases occur on one type of sex chromosome, or occur in individuals of one sex only.

In traditional mendelian genetics, sex-linked genes are genes carried on the X chromosome in mammals. In other species with other sex chromosome systems, sex-linked genes are those carried on the chromosome which is duplicated in one of the sexes; for example, birds have ZZ and ZW sex chromosomes, and sex-linked genes are on the Z chromosome.

Recessive variants of such genes are expressed much more often in the sex with differing sex chromosomes. For instance, in humans and other mammals, The recessive phenotypes of such genes occur more commonly in males than in females. The incidence in females is the square of that in males, so if 1/20 of the male population is green-blind, 1/400 of the female population is.

(AIS does not follow this rule because it interferes with reproduction.)

Sex-linked traits are inherited through chains of carrier mothers. That is, a girl, her mother, and her mother's mother all are carriers, while some of their sons have the trait.

Some sex-linked traits in humans:

• Red and green color blindness
• Hemophilia
• Androgen insensitivity syndrome
• Duchenne muscular dystrophy
• Adrenoleukodystrophy
• Barth syndrome
• G6PD deficiency

In cats:

• Orange and black

[edit] See also

• Haldane's rule
• genetics,Mendelian inheritance
• autosomal dominant, autosomal recessive

17-beta-hydroxysteroid dehydrogenase deficiency

Male pseudohermaphroditism is a medical term for the class of disorders of sexual development involving undervirilization of persons with testes. In recent decades, use of the term by physicians has been criticized because similar words have acquired pejorative connotations in non-medical usage.

[edit] Technical meaning

The original medical usage evolved in the late 19th century, and referred to humans and animals whose gonads were testes (or at least identifiable testicular tissue) and who had no identifiable ovarian tissue

[edit] Forms of male pseudohermaphroditism

[edit] Controversy about usage and alternative terms

See also Disorder of sexual development

Template:Med stub

Hermaphroditism and pseudohermaphroditism are medical terms describing common categories of intersex conditions. They date from the late 19th century, as the biological aspects of disorders of sexual development were beginning to be investigated medically and scientifically. Although in medical usage the terms are precisely defined (see below) descriptions of conditions, use of the term by physicians has been criticized in recent decades because similar words have acquired pejorative connotations in non-medical usage. However, there have been no completely synonymous terms (see below) that have become widely used and they are still frequently encountered in the medical literature.

[edit] Origin of the term

The term hermaphrodite is derived from the Hellenistic Greek name hermaphroditos, a character in Greek mythology with both male and female secondary sexual characteristics. The best-known version of the story survived in Ovid's Metamorphoses. Hermaphroditos, of course, is a combination of the names of the familiar god and goddess Hermes and Aphrodite. A number of sculptural and pictorial relics from Greek or Roman sources survived.

[edit] Medical usage

Before the end of the 19th century, the term hermaphroditism was used for any person displaying both male and female characteristics. A famous renaissance sculpture, for example

The original medical usage evolved in the late 19th century, when gonadal tissue could be identified by examination under the microscope as testicular or ovarian.

and referred to humans and animals whose gonads were testes (or at least identifiable testicular tissue) and who had no identifiable ovarian tissue

of disorders of sexual development involving undervirilization of persons with testes.