Isochromosome of Yp in a man with Sertoli-cell-only syndrome

被引:30
作者
Lin, YH
Chuang, L
Lin, YM
Lin, YH
Teng, YN
Kuo, PL
机构
[1] Natl Cheng Kung Univ, Coll Med, Dept Obstet & Gynecol, Tainan 70101, Taiwan
[2] Natl Cheng Kung Univ, Coll Med, Dept Urol, Tainan 70101, Taiwan
[3] Natl Cheng Kung Univ, Coll Med, Inst Mol Med, Tainan 70101, Taiwan
[4] Chia Nan Univ Pharm & Sci, Dept Childhood Educ & Nursery, Tainan, Taiwan
关键词
azoospermia factor; isochromosome; Y chromosome;
D O I
10.1016/j.fertnstert.2004.08.026
中图分类号
R71 [妇产科学];
学科分类号
100211 [妇产科学];
摘要
Objective: To address phenotype/genotype correlation in a main with i(Y)(p10). Design: Case report. Setting: University-based reproductive genetics laboratory. Patient(s): A 27-year-old azoospermic man with i(Y)(p10), relatively normal stature, and testicular Sertoli-cell-only syndrome. Intervention(s): Testicular biopsy, cytogenetic study, Y-chromosome deletion mapping analysis, fluorescence in situ hybridization (FISH). Main Outcome Measure(s): Expression of Y-chromosome genes. Result(s): We have identified one azoospermic man with i(Y)(p10) of 312 Taiwanese men presenting with a severe spermatogenic defect. Y-chromosome deletion mapping analysis confirmed deletions of all Yq sequences, including a putative growth controlling gene. Fluorescence in situ hybridization (FISH) analysis showed duplication of Yp material. The patient had normal stature considering midparental height. He also had no germ cells in the testicular tissue (Sertoli-cell-only syndrome) resulting from the loss of azoospermia factor in Yq. Conclusion(s): Among structural rearrangements of the Y-chromosome, the isochromosome of Yp occurs very rarely. This case is the first reported case of an isochromosome Yp with a detailed description of testicular histology and body height. (c) 2005 by American Society for Reproductive Medicine.
引用
收藏
页码:764 / 766
页数:3
相关论文
共 7 条
[1]
Blood glucose concentrations are reduced in children born small for gestational age (SGA), and thyroid-stimulating hormone levels are increased in SGA with blunted postnatal catch-up growth [J].
Cianfarani, S ;
Maiorana, A ;
Geremia, C ;
Scirè, G ;
Spadoni, GL ;
Germani, D .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (06) :2699-2705
[2]
High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome [J].
Foresta, C ;
Ferlin, A ;
Garolla, A ;
Moro, E ;
Pistorello, M ;
Barbaux, S ;
Rossato, M .
HUMAN REPRODUCTION, 1998, 13 (02) :302-307
[3]
Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere [J].
Kirsch, S ;
Weiss, B ;
Kleiman, S ;
Roberts, K ;
Pryor, J ;
Milunsky, A ;
Ferlin, A ;
Foresta, C ;
Matthijs, G ;
Rappold, GA .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (07) :507-513
[4]
Functional coherence of the human Y chromosome [J].
Lahn, BT ;
Page, DC .
SCIENCE, 1997, 278 (5338) :675-680
[5]
Gene-based screening for Y chromosome deletions in Taiwanese men presenting with spermatogenic failure [J].
Lin, YM ;
Lin, YH ;
Teng, YN ;
Hsu, CC ;
Lin, JSN ;
Kuo, PL .
FERTILITY AND STERILITY, 2002, 77 (05) :897-903
[6]
Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature [J].
Ogata, T ;
Kosho, T ;
Wakui, K ;
Fukushima, Y ;
Yoshimoto, M ;
Miharu, N .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (08) :2927-2930
[7]
Robinson A, 1998, GENETIC DISORDERS FE, V4th, P249