Hypogonadism in PWS is characterised by underdeveloped genitalia, incomplete puberty and infertility. The affects on genitalia are evident from birth, in both boys and girls. Cryptorchidism (undescended testes) is typical in the vast majority of male infants and a procedure called orchidopexy to bring testes down may be necessary.
Puberty and Fertility
Puberty is usually delayed and/or incomplete, with slow or disrupted progression. However, on average, children with PWS reach a stage called pubarche (development of pubic hair) earlier than is typical, but premature pubarche (usually caused by premature adrenarche) can happen as early as before the ages of 8 or 9 in 14-30% of children with PWS. This is not related to actual pubertal onset. Adrenarche is a separate process to puberty which typically occurs a few years before and causes new hair growth, body odour, skin and mood changes.
The onset of actual puberty may begin as expected or be delayed. Early pubertal development is often experienced normally with some breast development in girls and a degree of penile development in boys. However, the penis and testes rarely reach full development and menstruation in girls either does not start, is sporadic, or is very delayed, sometimes starting much later in adulthood. Some girls develop oligomenorrhea (infrequent menstrual periods) which is usually only intermittent spotting, but primary amenorrhea (absent menstruation) is slightly more common. A very small number of children with PWS are affected by precocious (early) puberty which can result in having a slightly advanced bone age. Treatment to suppress development may not be needed as pubertal advancement is usually not sustained.
It was previously thought not possible for men or women with PWS to have children. There are no known cases of a man with PWS fathering a child, but there have been a handful of women with PWS who have had a baby. Without sex hormone treatment, fertility is unlikely, but current advice is that birth control should be considered for women with PWS who are sexually developed, even if menstruation is sparse and minimal. Similarly, males should also be counselled about the possibility of their own fertility if penile length and testicular volume is normal. Infertility in males is complex and it remains unknown if it is possible to correct. Multiple forms of hypogonadism have been observed involving testicular dysfunction and various hormone deficiencies. If fertile, those with PWS by deletion have a 50% chance of their baby being born with either Angelman syndrome if they are female, or PWS if they are male. Those with PWS by UPD would have every chance of having a healthy baby.
Sex Hormone Treatment
Testosterone therapy for boys and oestrogen therapy for girls can be used for promoting and maintaining pubertal development. They are sometimes prescribed to induce puberty, but are often used when puberty stalls. These therapies may improve sexual function and have the potential to bring about fertility in females (and possibly males.) However, some research suggests that attempts to normalise male genitalia with gonadtropins and androgens might be more effective during infancy or early childhood.
Sex hormone therapies are also beneficial for bone health, retaining muscle mass and for general well being. Due to hormone deficiencies, adults with PWS have low bone mineral density, but sex hormone therapy can increase bone density and help prevent osteoporosis, particularly if given during the period of bone building (before age 25-30 yrs.)
Key Points for Providing Support
- Puberty is usually delayed and incomplete. The person with PWS will be aware of their developmental differences and this needs to be handled sensitively.
- Sex hormone treatments should be considered to help normalise pubertal development and improve sexual function.
- Inidividuals with PWS have the same needs and desires as everyone else and want to have relationships.
- Sex education needs to explicitly teach responsibilities, boundaries, appropriateness and safety because it cannot be assumed these are understood.
- Long term relationships can be successful with appropriate support.
- Female fertility is possible, particularly with sex hormone treatment. Male fertility is unlikely, but fertility outcome with sex hormone treatment is uncertain. Birth control should be considered.
- Growing Up with PWS – Animations – VIDEOS: Sex education specifically for young people and adults with PWS aged 11+, by the PWSA(UK)
- Social Life and Relationships: 18 – 25 years – by the PWSA(UK)
- Social Life and Relationships: 25 – 40 years – by the PWSA(UK)
- Some examples of resources which are available to borrow from the IHC Library: Talking together…about sex and relationships – a practical resource for schools and parents working with young people with learning disabilities; Jason’s Private World – DVD 2012; Love and kisses / relationships & sexuality featuring people with disabilities – DVD 2006. A positive look at the intimate lives of people with disabilities through drama and interviews looking at dating, building relationships, safe sex, unwanted touching and rights, marriage; Your rights about sex – a booklet for people with learning difficulties; Picture Yourself – a teaching resource; Feeling sexy, feeling safe – a booklet and DVD 2002. Public and private parts of the body, public and private places, saying yes and no to sex, and the sexual person.
- Healthy Relationships Programme – for teens and adults with intellectual disabilities. Provides practical tools to build resiliency and to prevent bullying, violence and abuse. By Kidpower Teenpower Fullpower Trust NZ (www.kidpower.org.nz)
- Hypogonadism in PWS – VIDEO: Assoc Prof T Markovic presenting at the 3rd Asia-Pacific PWS Conference, 2015