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Ann Pediatr Endocrinol Metab. 2017 Dec;22(4):266-271. doi: 10.6065/apem.2017.22.4.266. Epub 2017 Dec 31.

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

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Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
Division of Pediatric Endocrinology, Department of Pediatrics, Endocrine Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea.
Department of Pediatrics, Sowha Children's Hospital, Seoul, Korea.


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.


Gynecomastia; Marker chromosome; Microdeletion; Y chromosome

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