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

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

Affiliations
  • 1Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.
  • 2Division of Pediatric Endocrinology, Department of Pediatrics, Endocrine Research Institute, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. kimho@yuhs.ac
  • 3Department of Pediatrics, Sowha Children’s Hospital, Seoul, Korea.

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.

Keyword

Marker chromosome; Microdeletion; Y chromosome; Gynecomastia

MeSH Terms

Adolescent
Arm
Azoospermia
Centromere
Estradiol
Fluorescence
Follicle Stimulating Hormone
Foot
Genitalia
Gynecomastia*
Hand
Humans
In Situ Hybridization
Karyotype
Male*
Metacarpal Bones
Metatarsal Bones
Overweight
Polymerase Chain Reaction
Reference Values
RNA
Sequence Tagged Sites
Testosterone
Toes
Y Chromosome
Estradiol
Follicle Stimulating Hormone
RNA
Testosterone

Figure

  • Fig. 1. Radiographs showed short fourth and fifth metacarpal bones in the left hand and fourth metatarsal bone in the left foot (arrows).

  • Fig. 2. (A) The karyotype of the present case was identified as 46, X, +mar (arrow indicates marker chromosome). Centromere of the Y chromosome was confirmed on the marker chromosome for all 150 cells in metaphase via fluorescence in situ hybridization. (B) The green probe is for DXZ1 (Xp11.1–q11.1), and the orange probe is for DYZ3 (Yp11.1–q11.1). DXZ and DYZ, D (DNA), Y (Y chromosome), X (X chromosome), Z (Z-repetitive copy DNA).

  • Fig. 3. Schematic map of the microdeleted Ychromosome with loci investigated in the case (A) using polymerase chain reaction of 25 Y-specific sequence-tagged site (STS) markers and direct sequencing (not shown) (B). Sex-determining region Y (SRY) was preserved, but there were microdeletions of AZFa, AZFb, and AZFc, and a deletion of heterochromatin. (A) Deleted loci of Yq were displayed as (-) and bold characters indicate positive STS on the Y-derived marker chromosome. PABY, proximal border of the pseudoautosomal region of Y; AMGY, amelogenin sequence of Y; YRRM, Y chromosome RNA recognition motif; AZF, azoospermia factor; DYZ and DYS, D (DNA), Y (Y chromosome), Z (Z-repetitive copy DNA), S (segment, and the number indicates published order of specific cloned DNA sequence).


Reference

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