CdLs UK and Ireland

Puberty and adolescence in CdLS –
a survey of the changes

by Antonie Kline, M.D. Medical Director, CdLS-USA Foundation



	Contact: Dr Kline invites questions from CdLS parents and carers.


	Track your child’s growth Many families will be familiar with the growth charts issued by the Foundation which allow you to track the development of a child with CdLS. The charts show the average growth rates of both boys and girls, firstly from birth to three years and then from three years to 18 years. Now the charts are available online in an easy-to-use format on the CdLS UK website at www.cdls.org.uk in the ‘Background’ section. The charts can be downloaded for printing. You can refer your local medical professionals to the charts.

Although CdLS was originally described in the early 1900s, the syndrome has been well characterised only during the last quarter of the century. Many individuals with CdLS, diagnosed when they were infants, are now entering into adulthood.

A large number of families and caregivers, therefore, have multiple questions about both the physical and mental changes that will occur during puberty, adolescence and adulthood. Previously, our answers as healthcare providers had been based on personal experiences with individual adult patients of different ages.

There are few publications addressing adolescent and young adulthood issues for any genetic syndrome, although these are of great interest to both primary care providers and geneticists.

Global

In the past several years we have collected specific information about puberty and adolescence from families, as part of an ongoing global project to evaluate ageing in CdLS.

A puberty questionnaire was originally distributed to member families of the CdLS Foundation through the USA office eight years ago. Seventy-four have been evaluated for this part of the ageing project, and the collated results follow.

There were almost twice as many surveys received on females than on males. Both males and females experienced worsening gastroesophageal reflux during adolescence, often requiring treatment. Sixty per cent reported circulation problems with their hands and/or feet. Other medically related issues include scoliosis (curvature of the spine), nasal polyps (growths in the nose), seizures and psychiatric disorders.

Of the responses received, the average age of puberty onset was 13 years in females and 14 years in males, both slightly later than in unaffected children. There was a growth spurt reported during puberty in both height (in 40 per cent of the females and half of the males) and weight (in 60 per cent of the females, and in 40 per cent of the males).

Pubic hair developed in most of the individuals (in 85 per cent of the females and 90 per cent of the males), however axillary hair (under the arms) was infrequent (in 20 per cent of the females and 35 per cent of the males). Of the survey answers received on the females with CdLS, 80 per cent reported breast development, and only 75 per cent ever ‘got’ their period.

Premenstrual syndrome was common; irregularity of the periods was present but less common. Various treatments for menstruation include, with varying degrees of success: hysterectomy, hormonal replacement (e.g. taking hormones via a pill), and gynaecology procedures. Of the surveys received on the males with CdLS, two thirds reported facial hair, and half had increased size of genitalia (penis, testicles).

Behaviour

Three-quarters of the surveys discussed that behavioural issues were very common and worsened with the onset of puberty. Thirty-eight per cent reported moodiness, 25 per cent had self-injurious behaviour, 25 per cent had oppositional behaviours, 15 per cent had aggression and 7 per cent an obsessive-compulsive disorder.

Other behavioural concerns included change in sleep patterns and masturbation. Management of these issues provides the most difficult challenge to the caregivers.

This information will enable us to address your questions about physical changes, mental development, and specific concerns as your children enter puberty and adolescence.

In addition, we will be able to provide specific answers to queries from your primary care provider. As we pursue our ‘ageing’ project, we hope to continue to be able to supply information that can be useful for each of you. As always, please do not hesitate to contact us with specific questions.


	Some of your questions answered...

	In her role as Medical Director of the CdLS Foundation USA, Dr Kline has taken on the role of facilitating the questions to the Scientific Advisory Council (SAC) and sharing issues with other SAC members worldwide. You can ‘Ask The Doctor’ by accessing the section on the CdLS UK’s website on the internet: www.cdls.org.uk and your question will be answered by Tonie or by UK medical director, Dr David Fitzpatrick. These are some of the questions that Tonie has shared on the subject of puberty and adolescence. SUBJECT: Male sex hormones Q My son, who has CdLS, is now 13 years old. Last year we did not proceed with his doctor’s recommended testosterone therapy because of the possible stress and side effects it may have caused him. Our son is now 127 centimetres (around 4 feet, 3 inches) in height and weighs 26.3 kilograms (57-58 lbs.); his bone age is 5-7 years. It was suggested that hormone injections would help his bone makeup, but we feel he may not go through puberty until he is 17 or 18 years of age. Would this be too late for any intervention? A Regarding hormone injections, I do not think there is any medical risk or danger with waiting to start someone into puberty if they do not go on their own. I would assume from the context of the message that, although your son is 13 years old, he has not yet started into puberty. A delayed bone age is typical of CdLS (anecdotally) and implies that he will continue to be small (no surprise) and go into puberty somewhat later. The male hormones will start the process of fusing his bones and he will no longer grow in height if this occurs. Therefore there is more than one reason to wait. SUBJECT: Testosterone injections Q One of the Foundation’s publications addresses the use of testosterone injections for issues of puberty but that they can increase negative behaviours. Do you find this to be true? Can they be used to modify one behaviour and replace it with a possibly less harmful one? A Testosterone, like any steroid, can have negative behavioural effects. Testosterone treatment can be considered if secondary sexual characteristics have not yet started in puberty, although it will stop further height gain. Furthermore, it can increase aggression. SUBJECT: Menstruation Q Our 12-year-old daughter began her menstrual cycle and really doesn’t understand it, although she is better now. Her flow seems unusually heavy and it just runs down her. Should we take her to her doctor to see if anything can be done? A Typically, the DepoProvera shots (progesterone) will eventually decrease the blood flow of the menstrual periods, or stop them altogether. Initially, though, there can be increased blood flow that could last up to 9-12 months. Also, an oral contraceptive (‘the pill’) will help regulate flow. Parents have reported difficulty with their daughters’ understanding of menstrual periods. I would think it helpful for parents of young, adolescent daughters with CdLS to discuss several issues with their health care provider, including control of bleeding, prevention of pregnancy, and sexuality, preferably prior to the onset of menses (menstruation). SUBJECT: Body odour and bloody nappy Q My daughter recently developed extreme body odour, similar to that of a sweaty adult, and blood in her nappy. Could these be related or due to precocious puberty? What follow up is recommended? We are scheduled to see an endocrinologist. A First of all, there are several metabolic conditions (conditions caused by an abnormality in one of the hundreds of body enzymes producing specific symptoms in the individual) that can produce an odour like sweaty feet. These can be screened for by a test on urine called organic acids and a blood test called plasma amino acids. These tests are most effective when the odour is present, or if the child is ill. Just because someone has CdLS, it does not necessarily mean that they couldn’t have something else. Metabolic conditions can be quite severe, with seizures and neurological problems, but there can be partial defects in which it is not so severe, and an unusual odour could be a tip-off. Regarding the blood in the nappy, I cannot tie that in with either the odour or the CdLS. I would make sure you take the blood to the doctor to have it tested to make sure it is blood (you probably already did this). There are a number of potential causes of blood in the nappy: blood from urine (urinary tract infection, kidney infection, diseases of the kidney that also have other findings in the urine and body), blood from bowel (fissures or cracks in the rectal area, internal fissures, haemorrhoids, infections, other bowel diseases often presenting with diarrhoea, etc.) or blood from the female genital tract (very unlikely at such a young age). I would not attribute this to precocious puberty unless there is also lots of pubic hair and other pubertal changes. Still, if some of this has already been worked up by your doctor, then a referral to endocrinology is reasonable.