Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report.
49,XXXXY syndrome is a very rare sex chromosomes polysomy, which is always connected with dysmorphic appearance, hypergonadothrophic hypogonadism and mental retardation. In this report we describe the clinical, biochemical, hormonal, radiological and developmental status of the patient with 49,XXXXY syndrome, referred to our department at the age of 12 months because of underdeveloped external genitalia. Subclinical hypothyroidism and severe scoliosis could further disturb his development.
Wikiera
Beata
B
Department of Endocrinology and Diabetology for Children and Adolescents, Wroclaw Medical University, Wroclaw, Poland. wikierab@wp.pl
Głab
Ewa
E
Slezak
Ryszard
R
Wójcik
Elzbieta
E
Noczyńska
Anna
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007037:Hypothyroidism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012600:Scoliosis / Q000235:genetics*; D025064:Sex Chromosome Disorders / Q000235:genetics*