Endocrine/Growth Hormone

Several new reports on growth hormone (GH) therapy support the benefits of GH use in PWS, while continuing the trend of a reassuring safety profile.

Growth hormone (GH) replacement therapy is one of the few effective treatments available today to help children with PWS overcome some of the problems associated with the disorder. Kids with PWS are generally troopers when it comes to receiving their daily GH shot, but, wouldn't it be nice if they could get the same result without the needle?

The incidence of scoliosis in Prader-Willi syndrome is quite high (~30% in children under the age 10; up to ~80% in kids over the age of 10, compared to <3% in the general population). Because moderate to severe scoliosis can be associated with significant complications, and may require surgical intervention, it’s important to understand and minimize contributing factors.

Several recent studies have begun to look more carefully at the causes of death in PWS, particularly in cases where death was sudden and/or unexpected. A review of 64 cases of death in children with PWS noted a high occurrence of respiratory infections in cases with fatal outcomes [Tauber 2008 , and references therein]. In addition, there have previously been suggestions in the medical literature that people with PWS may have unrecognized deficiencies in the adrenal system [Stevenson 2003 , and references therein]. Since a properly functioning adrenal system is critical during times of acute illness, some authors have speculated that deficiencies in the adrenal system may contribute to unexpected deaths in PWS. A new study begins to address the function of the adrenal system in individuals with PWS, and suggests that this is an area deserving of more attention.

The clinical experience of GH in adults with PWS is not very well studied, but the first reports are encouraging. Two previous studies have suggested there are benefits to GH therapy in adults with respect body composition and physical performance

  Parents of newly diagnosed infants with PWS often wonder at what age to start growth hormone (GH) therapy. Advice from medical professionals is sometimes inconsistent, with some doctors advocating the use of GH as soon as possible after the diagnosis, while others prefer to wait until the baby/toddler starts to fall off his or her growth curve.

Dr. Phillip Lee is an expert on PWS endocrine issues; notably growth hormone therapy in PWS. He has recently written a review on the subject in the Growth, Genetics & Hormones journal, an online resource directed to endocrinologists and health professionals that reviews and comments on recent advances in the area of human growth.

Growth, Genetics, and Hormones is a free e-newsletter, primarily for endocrinologists (but anyone can sign up and receive it). One very nice feature they have is a review of recent articles of interest in the literature, with editorial comments about the implications of the studies.

There's a new paper out in a top journal, Science, on what is may be the first understanding of the underlying molecular basis of features of PWS - The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C -- I've put the link at the end of the message. Here's the lowdown: