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09:25 - 09:28
S13-5
(PP)
DIFFERENT PHENOTYPES IN 45,X/46,XY MOSAICISM
Emilio MERLINI
1
, Roberta RISSO
2
, Silvia EINAUDI
2
, Giorgia FENOCCHIO
2
, Monica SBERVEGLIERI
3
and Roberto LALA
2
1) REGINA MARGHERITA CHILDREN'S HOSPITAL, CITTÀ DELLA SALUTE E DELLA SCIENZA, PEDIATRIC UROLOGY, Turin,
ITALY - 2) REGINA MARGHERITA CHILDREN'S HOSPITAL, CITTÀ DELLA SALUTE E DELLA SCIENZA, PEDIATRIC
ENDOCRINOLOGY, Turin, ITALY - 3) UNIVERSITY OF TURIN.ITALY, GINECOLOGY, Turin, ITALY
PURPOSE
45,X/46,XY phenotypes widely vary at birth. Sex attribution usually relied upon genital anatomy. Nowadays preferences
of the family have gained more importance. Aims of the study were to investigate functional anatomy and life
satisfaction in a cohort of patients with 45,X/46,XY mosaicism.
MATERIAL AND METHODS
Personal histories of ten patients with 45,X/46,XY mosaicism treated between 1985 and 2014 have been analyzed: five
children and five young adults, four reared as females and six as males. Clinical outcome was assessed by means of a
clinical scoring system considering height, genital appearance, gonad and pubertal development. To investigate life
satisfaction, the Gender Identity Questionnaire for Children and the World Health Organization Quality of Life
assessment were adopted.
RESULTS
The four male children were strongly identified with their assigned sex. In young adults of both sexes the clinical scores
ranged between 55%-65%, being 100% the optimal adherence of phenotype to attributed sex. The reduced sexual
activity and body image perception scores in the young males strongly affected their quality of life. Clinical scores of the
two young female adults were not balanced with their quality of life scores. Individual traits and social-familial context
should be investigated in order to explain these differences.
CONCLUSIONS
Clinical scores of 45,X/46,XY patients presented a satisfying adherence to attributed sex. Gender indentity in male
children was strong. After puberty impairment of quality of life was influenced by reduced sexual activity and disturbed
body image perception both in males and females.