45,X/46,X,psu idic(Y)(q11.2) in a phenotypically normal male with short stature: a case report.

Autor: Kawabe Y; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Yamaguchi M; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Miyagaki S; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Ota T; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Morimoto H; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan., Hattori A; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Mori J; Department of Pediatrics, Kyoto Prefectural University of Medicine, Kyoto, Japan.
Jazyk: angličtina
Zdroj: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2020; Vol. 29 (4), pp. 189-193. Date of Electronic Publication: 2020 Oct 03.
DOI: 10.1297/cpe.29.189
Abstrakt: We report a case of 15-yr-old phenotypically normal male with short stature associated with the chromosomal abnormalities of 46,X,psu idic(Y)(q11.2)/45,X. At 3 yr of age, he underwent urethroplasty for scrotal hypospadias. At 15 yr of age, he was referred to our hospital due to short stature (-3.71 SD). The results of blood examination were mostly normal. A radiological examination revealed his bone age was 15.7 yr (based on the TW2-RUS method). Chromosome analysis of peripheral lymphocytes revealed 46,X,psu idic(Y)(q11.2)[16]/45,X[14], and array comparative genomic hybridization (aCGH) showed a large deletion of Yq which was located distal to the Y chromosome growth-control gene ( GCY ) region. It is likely that these structural abnormalities in the Y chromosome were responsible for the short stature. This case might provide new insights regarding GCY and emphasizes the importance of chromosome analysis in not only females but also males with short stature, especially when associated with genital anomalies.
(2020©The Japanese Society for Pediatric Endocrinology.)
Databáze: MEDLINE
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