Search

Disorders of sex development (DSD) often lead to infertility or sterility because of abnormal gonadal development or prophylactic gonadectomy, yet fertility preservation has rarely been considered for these patients. While infertility or sterility is a risk, fertility preservation represents a complicated decision-making consideration for parents of children with DSD, who may make decisions before a child is mature enough to participate in that process. Optimal timing of fertility preservation, potential for germ cell or gonadal tissue cryopreservation, and attitudes toward fertility preservation among those with DSD and their family members are emerging areas of research and require further study.

Hematopoietic stem cell transplant (HSCT) is used for treatment of both oncologic and non-oncologic conditions (e.g., thalassemia, sickle cell disease). Infertility is a known late effect of HSCT. Prepubertal status does not protect male patients from gonadotoxicity of either the chemotherapy agents used in HSCT conditioning regimens or from the effects of total body irradiation. Spermatogenesis (development of mature sperm) does not begin until puberty. Therefore, the only fertility preservation option available to a prepubertal male is testicular tissue cryopreservation (TTC), an experimental option currently offered at limited number of pediatric institutions. TTC is investigational and thus should occur as part of an institutional review board-approved research protocol. Although TTC is experimental, a recent study indicates that most parents and patients will pursue TTC when faced with a diagnosis requiring gonadotoxic therapy such as HSCT.

Youth with differences/disorders of sex development (DSD) exhibit higher rates of gender dysphoria (GD) compared to the general population, though rates vary widely as a function of syndrome, syndrome severity, and initial gender assignment. Classical Turner syndrome is classified as a sex chromosome DSD; it is a genetic condition characterized by X-chromosome monosomy, short stature, complete gonadal dysgenesis, and female typical external genitalia. Approximately 50% of all females with Turner syndrome have some type of mosaicism, and approximately 6% have mosaic 45,X/46,XY with as high as 12% having some Y chromosome material present. Despite falling under the DSD classification, neither classical Turner syndrome nor Turner syndrome with Y chromosome mosaicism has been reported in the literature to be associated with GD. Here we describe a prepubescent gender-nonconforming birth-assigned female whose parents initially presented for consultation regarding gender nonconformity. Subsequent evaluation for short stature revealed 45,X/47,XY + 21 Down-Turner mosaic karyotype. To our knowledge, our patient is the first with Down-Turner mosaicism with phenotypic female genitalia and among the first reported cases of GD with comorbid Turner syndrome with Y chromosome mosaicism.

In 2009 the Endocrine Society’s clinical practice guidelines for care of transsexual persons were published. Since that time society and the medical community have experienced increased acceptance of gender transition in persons with gender dysphoria. The hormone treatment of transindividuals may render them infertile, and thus the guidelines recommend that individuals starting cross-sex hormones be counseled about their effects on fertility and possible fertility preservation options. In this chapter we examine the hormonal treatment for individuals with gender dysphoria, their effects on fertility, as well as fertility preservation options.