**7. Gonadal cancer risk**

Dysgenetic gonads with a Y chromosome material are associated with an increased risk for malignancy, mainly gonadoblastoma, dysgerminoma and germ cell tumors, including seminoma, non-seminoma, juvenile granulosa cell and germ cell neoplasia in situ [66, 67]. Gonadoblastoma (GB) presents with a mixture of germ cells and stromal elements as well as immature Sertoli cells and may contain calcifications with pure gonadoblastomas being not metastatic. About 80% of patients with GB are phenotypic females and 20% are phenotypic males, many of them with hypospadias and bilateral or unilateral cryptorchidism. The incidence of GB in dysgenetic gonads varies from 4.7% to as high as 25%. Germ cell neoplasia in-situ cells are found lining the seminiferous tubules in dysgenetic testes and resemble immature germ cells. Thus, they cannot be diagnosed before puberty when they are normally present. However, when found in the testes in late childhood or post puberty they are pathological and are capable of transforming into seminomas in males and dysgerminoma in females and this tumor can metastasize. Removal of the gonad prior to puberty in patients with complete androgen insensitivity is controversial in view of the data indicating low risk for malignancy until early adult years [68, 69]. In these patients, if the testes are located in the labia majora, they are amenable to ultrasound surveillance and biopsies, if needed which makes post-pubertal monitoring simpler. When the testes are undescended, laparoscopic gonadopexy to bring them near the anterior abdominal wall to allow surveillance may be an option for patients who decide to avoid gonadectomy [68, 69]. Delayed surgery can help in involving the patient in the decision making [67, 70, 71].

**75**

*Approach to the Newborn with Disorders of Sex Development*

Persistent Mullerian Duct Syndrome is associated with the usual cancer risk associated with cryptorchidism as well as an unknown incidence of a possible tumor risk

In 2006, a new definition of genetic counseling was published in the Journal of Genetic Counseling, by a task force that was convened by the National Society of Genetic Counselors (NSGC). The definition is as follows: "Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the

a.Interpretation of family and medical histories to assess the chance of disease

b.Education about inheritance, testing, management, prevention, resources and

Genetic counselling has an important role in the management of DSD patients and their families. In most cases, counselling involves the woman/couple, following the birth of a child with DSD and/or in discussing the implications of their future reproductive plans. Genetic counselling can also be extended to other family members and the implications to themselves and their future pregnancies. Discussions with other family members require consent from the parents of the index patient or the index patient himself/herself if of age of maturity. Other indications for genetic counselling include an adolescent or young adult with DSD who wishes to learn more about their own diagnosis and the implications for her/his reproductive plans as well a woman/couple during their pregnancy when discordance between the

Following the birth of a child with DSD, parents are often overwhelmed and confused by their child's condition. Although gender assignment and naming of the child are pressing issues for the parents, these actions should not be unduly rushed. Parents should be provided with information so as to help them in making informed decisions, together with their healthcare team. Adequate counseling and support for parents includes education regarding sexual development in utero (including brain imprinting of gender identity), genetic counseling, ethical considerations of the child's rights to make decisions regarding gender, and information regarding

A three generation family history should be obtained with careful inquiry. Information about family history of infertility, women with no menstrual periods, stillbirth, recurrent miscarriages, neonatal death, congenital abnormalities, intellectual disabilities and consanguinity should be obtained. When drawing the family history, it should be kept in mind that chromosome sex and phenotypic sex may be interpreted differently by the family; for the family, it is the phenotypic sex that identifies the family members as male or female (versus chromosome sex). Furthermore, in X-linked conditions the phenotypic infertile female may be

chromosomally male (such as in androgen insensitivity or ATRX).

c.Counselling to promote informed choices and adaptation to the risk or

*DOI: http://dx.doi.org/10.5772/intechopen.94570*

of the Mullerian duct structures.

**8. Genetic counseling and DSD**

occurrence or recurrence.

genotypic and phenotypic sex is identified.

current guidelines and recommendations.

following:

research.

condition" [72].

Persistent Mullerian Duct Syndrome is associated with the usual cancer risk associated with cryptorchidism as well as an unknown incidence of a possible tumor risk of the Mullerian duct structures.
