Gender Identity Issues in Children and Adolescents

Infants are assigned a gender in various ways. Most often assignment is made in the delivery room where it is common to hear "It's a boy!" or "It's a girl!" Prenatal genetic testing allows for pre-delivery determination. Ultrasound assessment of genitalia in the second and third trimester is also used. And to the parents and close family friends, facial and familial characteristics make some offspring unmistakable: "that's my boy - a spittin' image of the old man."There are disorders of development of sexual identity. Some of these disorders have a physical basis, and some have a psychological disorder of development and self-identity. The physical disorders of sexual development are rare, and can make identification of male or female difficult.Physical Disorders of Sexual DevelopmentExamples include:1. Male pseudo-hermaphrodite (the underdone male)2. Female pseudo-hermaphrodite (the virilized female)3. Mixed Gonadal Dysgenesis4. True hermaphrodite5. XX maleness6. Cloacal defectMale Pseudo-HermaphroditeThese are genetic male infants who have a deficient response to androgens in utero. This deficient response can come from underproduction of androgens or from defects in androgen receptors.Underproduction of androgens in utero comes from either of two different enzyme deficiencies: 17-hydroxylase deficiency or 22-desmoiase deficiency. The adrenal and the gonad are lacking in the ability to convert androgen precursors to more effective forms of these hormones and so the expected virilization of the androgen-sensitive anlage does not occur completely.Defects in androgen receptors result in an inability of the genetically male fetus to respond to the masculinizing effects of testosterone. The testicle still produces Anti-Mullerian hormone which regresses the uterus, fallopian tubes and the upper third of the vagina, but the lack of active stimulation of testosterone and its important metabolite, di-hydro-testosterone causes the external genital structures to remain in a female configuration. In the case of complete androgen insensitivity there is never any change in tissue response and the patient is reared as a female. In the case of partial androgen insensitivity, virilization may occur with the onset of puberty, and the patient may choose to be reared subsequently as a male.Female Pseudo-HermaphroditePatients with these disorders are genetically female, but have different degrees of virilzation due to excess androgen exposure in utero.Diagnoses here include congenital adrenal hyperplasia due to 21-hydroxylase deficiency which causes the female fetus to virilize the external genital structures to varying degrees depending on the degree of enzyme deficiency. Another possible diagnosis is transient production of androgens by the mother which cross the placenta and partially virilize the female structures prenatally.In contrast to the pseudo-hermaphrodite male and female, there are genetic disorders that lead to ambiguity or disorders of sexual development. These include mixed gonadal dysgenesis, true hermaphroditism, and XX maleness.Mixed Gonadal DysgenesisAlso known as XO/XY mosaicism, mixed gonadal dysgenesis is a mosaicism of the sex chromosomes (45,XO/46,XY mosaicism). Mixed gonadal dysgenesis is a rare disorder of sex development in humans. Depending on the gonadal chromosomal complement, the phenotype can be either that of a male or of female with a Turner syndrome (45 XO).Time HermaphroditismTrue hermaphroditism is defined as the simultaneous presence of both ovarian and testicular tissue within the same individual. The most common peripheral karyotype was 46, XX but other karyotypes such as 47, XXY and mosaicism 46, XX/46, XY or 46, XX/47, XXY can be found. The birth phenotype is generally female but with ambiguous genitalia. The ovarian tissue is frequently functional, but the testicular tissue is rarely functional. …