Fertility Preservation in Patients with Disorders of Sex Development


Sex chromosome DSD

46,XY DSD

46,XX DSD

Disorders of gonadal development

45,X, 45,X/46,XX, 45,X/46,XY Turner syndrome

Complete gonadal dysgenesis

Ovotesticular DSD

47,XYY

Partial gonadal dysgenesis

Testicular DSD

Klinefelter syndrome

45,X/46,XY

Gonadal regression

Gonadal dysgenesis

Mixed gonadal dysgenesis, ovotesticular DSD

46,XX/46,XY

Ovotesticular DSD
 
Chimeric, ovotesticular DSD
 
Disorders of androgen synthesis or action

Disorders of androgen excess
 
Androgen biosynthesis defect (e.g., 5-alpha reductase deficiency)

Fetal androgen excess (e.g., 21-hydroxylase deficiency congenital adrenal hyperplasia)
 
Defect in androgen action (e.g., complete androgen insensitivity or partial androgen insensitivity syndrome)

Fetoplacental androgen excess (e.g., aromatase deficiency)
 
LH receptor defects

Maternal (e.g., luteoma)
 
Others
 
Cloacal exstrophy

Cloacal exstrophy
 
Disorders of anti-Mullerian hormone

Vaginal atresia
 
Severe hypospadias

Mayer-Rokitansky-Kuster-Hauser syndrome



Nomenclature remains a controversial issue in this field, however. The 2006 Consensus Statement modified the overarching terms of intersex and hermaphrodite to DSD in an effort to make the term less pejorative. Other terms, such as variation in sex development and difference in sex development, were also considered, but ultimately, DSD was chosen. Some affected individuals continue to prefer the term intersex, while others prefer DSD and yet others dislike both terms. Presumably, the words “disorder” and “sex” have negative connotations to some individuals, and there is anecdotal evidence to this end. There are few studies addressing this topic. In a study of 19 affected individuals’ parents and 25 providers, overall the term DSD was considered preferable to intersex [5]. The parents considered it a term which made it easier to understand their child’s condition and to explain it to their child, but only 36.8 % reported DSD as an acceptable term to describe an individual’s condition when it is not possible to assign sex at birth as a result of atypical genitalia. Conclusions to make from this study, however, are limited by sample size. In 2015, Lin-Su et al. reported results from a survey of 589 patients with congenital adrenal hyperplasia who are members of the CARES support group [6]. In this group, 71 % disliked or strongly disliked the DSD term. This study, however, is of a very specific diagnosis and support group; therefore, these results may not reflect those of the population as a whole. There have been no large-scale studies of individuals and the medical community as a whole to determine whether a universally acceptable term may be found. The term DSD is used in this chapter as it is the currently accepted medical terminology, but with the understanding that this is not the preferred term for many affected individuals.

Medical, surgical, and psychosocial care is improving, but fertility preservation has rarely been addressed despite the number of conditions associated with a fertility/sterility risk. The fertility concerns, however, are different from those faced in cancer patients. Fertility issues facing individuals with specific DSD diagnoses are shown in Table 11.2. First, some DSDs are associated with abnormal gonadal development resulting in streak gonads or dysgenetic testes and ovaries [7]. This may result in gonadal failure from birth or progressive gonadal failure in childhood or adolescence. As such, the presence and quality of germs cells may vary, but we have no ability to assess numbers of germ cells at birth. Furthermore, the rate of failure of gonads differs within and between conditions. While there is uncertainty in the oncofertility patient as well, there is a known time for surgical resection of gonads or initiation of gonadotoxic chemotherapy which makes the care of DSD patients distinct.


Table 11.2
Fertility issues by DSD diagnosis





















































































Category

Disorder

Karyotype

Fertility issues

Malignancy concern

Common discordance between gender identity and gonadal type

Sex chromosome DSD
 
Turner syndrome

45,X

Premature ovarian failure, streak gonads

Yes, if Y chromosome material

No

45,X/46,XX

45,X/46,XY
 
Klinefelter syndrome

47,XXY

Testicular failure

No

No
 
Mixed gonadal dysgenesis

45,X/46,XY

Gonadal failure

Yes

Yes

46,XY DSD
 
Complete or partial gonadal dysgenesis (e.g., SRY, SOX9)

46,XY

Potential streak gonads or gonadal failure

Yes

Yes
 
Ovotesticular DSD

46,XY

Potential streak gonads or gonadal failure

Yes

Yes
 
LH receptor mutations

46,XY

Testes slightly reduced in size but mature Leydig cells absent/scarce (Leydig cell hypoplasia)

No

No
 
5-alpha reductase deficiency

46,XY

Oligospermia, azoospermia

No

Yes
 
Complete androgen insensitivity syndrome

46,XY

Not much evidence, suspect azoospermia or oligospermia

Yes

Yes
 
Partial androgen insensitivity syndrome

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Sep 24, 2017 | Posted by in GYNECOLOGY | Comments Off on Fertility Preservation in Patients with Disorders of Sex Development
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