Wednesday, May 22, 2013

PWS Awareness Day #22 (I didn't forget! :)): Endocrine Issues and Puberty

(Aren't you glad I remembered? Haha)
People with PWS have a disrupted endocrine system, meaning that the levels of various hormones and the regulation of such are not normal. This is reflected in the need for growth hormone (as mentioned earlier), but also for sex hormones, a propensity toward diabetes (which also has to do with weight gain that is usually associated with PWS), and even things like sleep/wake cycles, hypothyroidism, etc.

Boys with PWS are often born with one or both testicles undescended (which, by the way, is a characteristic of many other genetic disorders as well) and may receive a series of hCG or testosterone injections and/or surgery.

Typical signs of puberty may begin early, so that a person with PWS might experience body odor or even pubic hair beginning at age 5. Often, however, puberty does not complete on its own and further hormonal treatments are needed. For women with PWS who do not have a menstrual cycle, the lack of estrogen in the body can lead to serious osteoporosis. Hormonal treatments can help with this as well.

Males with PWS are currently known to be infertile (I have heard anecdotal reports contradicting this), and there have been some cases of females with PWS who have become pregnant (also, I believe a female with PWS who has PWS by deletion and becomes pregnant would have a child with Angelman's syndrome, right?).

Dean is obviously on GH and he also has hypothyroidism (he takes levothyroxine for this). He had hCG injections as an infant to help with his testicles descending (those big IM injections are not fun to give :( ) and he ended up having to have surgery anyway. Sigh.

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