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במצבים אלו מדובר בד״כ בכשל ראשוני של האשך. להלן האבחנות הנבדלות האפשריות שבראשו תסמונת קלינפלטר Primary testicular failure can result from a variety of congenital or acquired disorders, including chromosomal (Klinefelter syndrome, Y chromosome microdeletions, etc), single gene mutations, cryptorchidism, varicocele, etc. Klinefelter Syndrome is the most common known cause of primary testicular failure [4,5]. It affects approximately 1 in 1000 males [6] and is characterized by extra sex chromosome (X). Although an extra X chromosome (47,XXY) is the most common form, some men with Klinefelter syndrome have a greater number of X chromosomes or mosaicism (48,XXXY, 46,XY/ 47,XXY) [7]. Infrequently, a 46,XX males, resulting from translocation of the testis-determining gene (SRY) to an X chromosome, also have klinefelter syndrome phenotype [8]. The phenotype varies with the number of extra X chromosomes, and possibly also with the number of trinucleotide CAG repeats on the androgen receptor gene (a polymorphism); as the length of the repeat sequence increases, androgen receptor activity decreases. A longer CAG repeat sequence has been associated with taller stature, lower bone mineral density, gynecomastia, and decreased penile length [9]. Men with klinefelter syndrome generally have small, firm testes (depending upon whether prepubertal or post pubertal atrophy), resulting from damage to both seminiferous tubules and leydig cells. Serum concentrations of FSH and LH are elevated and testosterone levels are decreased to varying extent. Affected men have severely reduced sperm counts and are under-virilized [7,10]. Cryptorchidism is more common in men with klinefelter syndrome and causes more severe testicular damage [11]. Later in life, they have an increased risk for breast cancer, germ cell tumors, varicose veins and diabetes mellitus [12]. Other chromosomal abnormalities associated with primary gonadal failure include the 45,X/46,XY karyotype (mosaicism), causing a syndrome characterized by short stature and other features of Turner syndrome [13]. Because the testes may be streaks, dysgenetic, or normal, the phenotype varies from female to male. In those with a streak and a dysgenetic testis (mixed gonadal dysgenesis), the risk of gonadoblastoma is increased (approximately 20%), and gonadectomy is therefore indicated.

יש לבצע בדיקת קריוטיפ ובדיקה לחסרים בכרומוזום y,ולקבוע את הפרוגנוזה על סמך סה״כ הממצאים.

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