Endocrinology FAQ

Are there any associated liver problems with Noonan Syndrome?
I’ve had a couple of scans recently that show the stiffness of my liver is increasing. I just wondered if anybody had come across that before. I don’t think we recognise progressive liver disease as a common association with Noonan Syndrome. If there’s no sign of any auto-immune issues then I think the liver team should treat you as they would anybody presenting to the liver clinic. They like to do lots of tests and that would seem to be the sensible approach in this case. Question asked and answered at our family’s day 2018
Is puberty delayed in Noonan’s?

My understanding is that in Noonan’s puberty can be delayed in boys but is it the same for girls? My fifteen-and-a-half-year-old girl is a physically fully developed young woman but hasn’t had her period yet. She is PTPN11 with a pulmonary valve stenosis.

Early studies that looked at the onset of puberty both in boys and in girls showed that puberty is delayed in both boys and girls and perhaps reaching their full potential in terms of height and development just takes that little bit longer. It is more unusual to be physically developed in terms of puberty in all other ways and to have not started periods just yet. If there is a discrepancy between the normal body development and the periods, then this should be looked at more specifically. You can get discrepancies in the process of puberty itself and there are certain orders that we anticipate in children as they move on into adulthood. When those are staggered or disordered in some way there can sometimes be some other underlying endocrine issues.

Question asked and answered at our family’s day 2018

Is there a link between Coeliac disease and Noonan’s?

Our daughter has recently been diagnosed with Coeliac disease it and we understand that there is a higher incidence in other syndromes such as Down’s and Turner’s and we were just wondering if that might also be the case with Noonan Syndrome or if you know of any research that maybe is being done into this area.

There’s an enrichment for auto immune disease across the board and celiac disease is pretty common in the general population so it wouldn’t be surprising for it to be over represented to an extent in the Noonan Syndrome population. This topic has not been systematically studied or identified in the studies known to our medical advisory group.

Question asked and answered at our family’s day 2018

Is there any research on temperature regulation?

We have a little girl who’s nearly 3 and she often complains she gets very hot. She’s always fanning herself and I’ve read a few of the things on temperature regulation. Is there any research on this? Is it related to the lymphatic system or could it be dealt with by diet? I’ve noticed she often gets this and she sweats a lot at night and we often feed her by tube when she’s in bed and she really sweats. I wondered whether that’s to do with fat in the diet? Is there any research?

I don’t know of any research but sweating at night is very common. I saw a child with Noonan Syndrome aged 10 yesterday and he sweats a lot and needs pyjamas changed. I think it’s common but we don’t know what causes it. We know that this is extremely common in children with Costello Syndrome and it tends to improve with age.

Question asked and answered at our family’s day 2016