Gilmour, Jane Darling; (1997) Hyperphagic short stature. An investigation of possible genetic influences and defining the phenotype; A comparative study. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

The principal features of Hyperphagic Short Stature (HSS) are a grossly excessive appetite (hyperphagia) and short stature secondary to growth hormone insufficiency. Since a similar condition was first described by Powell et al (1967), studies have largely been descriptive, lacked appropriate comparison groups and used samples with heterogeneous aetiologies of growth failure. We aimed to refine the core features of HSS and explore possible genetic explanations for the condition. We gathered a consecutive series of HSS affected children (n=25) (mean age 9.04 years, sd 3.78, 72% male). Second 30 children with Prader-Willi syndrome (PWS) (mean age 8.75 years, sd 2.77, 67% male) were recruited. There are many similarities between the PWS and HSS features, notably hyperphagia. Third, a consecutive series of 25 stressed (abused and/or neglected) children was recruited (mean age 10.61 years, sd 3.04, 60% male). Finally 101 siblings of the index children were assessed. We collected parent, child and teacher reports of children's psychosocial adjustment, in addition to children's cognitive profiles and physiological stress reactivity data. Family aggregation and molecular genetic investigations were also carried out. The findings can be described in four categories. First, most systematic assessments showed that children with HSS were living in stressful conditions. Second, the key variables of HSS were identified, all of which had a hypothalamic substrate. Other emotional and behavioural disturbances in children with HSS were suggested to be normal reactions to psychosocial adversity. Though the degree, type and consistency of hyperphagia in HSS and PWS was comparable, there were a number of features which differentiated HSS and PWS. Third, familial aggregation was described, with 44% of HSS probands having an affected full sibling, in contrast to the comparison groups. Further, siblings with HSS had relatively poor cognitive ability and psychosocial adjustment in comparison to their unaffected siblings. Finally, we showed that the major locus associated with HSS, did not coinherit with the PWS locus at 15q11-13.

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