Puberty appears to be a difficult period for many individuals with CdLS. The onset and course of puberty appears similar to unaffected individuals, not only physically, but also emotionally and behaviourally. Some characteristics have included mood swings, irritability, unexplained pain episodes, contrariness, worsening behavioural problems, and aggression. In females, premenstrual syndrome occurs and may be treated syptomatically (e.g. Tylenol or non-steroidal anti-inflammatory agents). Menstruation may be a problem for caretakers, especially in females with communication difficulties. In addition, protection from potential pregnancy may be indicated, since for both males and females fertility appears to be normal or slightly decreased. Several therapeutic modalities have been utilized including synthetic hormonal treatment (e.g. oral contraceptives or depo-provera injection) and surgery (e.g. tubal ligation, hysterectomy). Together, the individual with CdLS, the family and the practitioner should determine the most appropriate course of action.

Undescended testicles are certainly at increased incidence in males with CdLS. Nearly 10% of affected males have one testis or both testes undescended, compared with less than 2% of the unaffected male population. In general, surgery is definitely recommended following failure of medical treatment (hormone injections) to bring down the testicles. The primary reason is because testicles that remain in the abdomen are at higher risk for developing malignancies than those that are in the scrotum, even though this is a fairly low percentage.

The secondary reason is for the fertility issue, which may or may not be a factor in an individual with CdLS, depending on the level of function. The earlier the procedure can be done (e.g. by age 2), the less are the psychological effects of the surgery, but it should be performed prior to puberty, since that is when the risk for cancer rises.

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