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A boy with 46,X,+mar presenting gynecomastia and short stature

Authors
 Ki Eun Kim  ;  Ye Jin Kim  ;  Mo Kyoung Jung  ;  Hyun-Wook Chae  ;  Ah Reum Kwon  ;  Woo Jung Lee  ;  Duk-Hee Kim  ;  Ho-Seong Kim 
Citation
 ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, Vol.22(4) : 266-271, 2017-12 
Journal Title
 ANNALS OF PEDIATRIC ENDOCRINOLOGY & METABOLISM 
ISSN
 2287-1012 
Issue Date
2017-12
MeSH
Gynecomastia ; Marker chromosome ; Microdeletion ; Y chromosome
Abstract
A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.
Files in This Item:
T201706197.pdf Download
DOI
10.6065/apem.2017.22.4.266
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Ye Jin(김예진)
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Jung, Mo Kyung(정모경)
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/178304
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