"XY translocation in a male inherited from his mother.h

DEL REY G; GOTTLIEB S; COPELLI S; BARREIRO C; COCO R

Costa do Sauipe, Bahia, Brazil

Congreso; XXI Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP); 2010

Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP)

Xp22;Yq11 translocations are rare rearrangements due to an abnormal meiotic interchange. The phenotype of males carriers varies according to the extension of Xp deletion. Females are normal and fertile but with short stature. Objective: We present the findings of an XY translocation in a normal, fertile mother and her child with micropenis, bilateral cryptorchidism and delay maturation. Patients and Methods: The mother consulted us when the child was 1.07 years. The mother had two spontaneous abortions and a normal child with a previous partner. At referral he presented a height -1.97 SDS, weight -1.34 SDS, head circumference -1.58 SDS, minor facial dysmorphism, short neck, widely-spaced nipples, partial ichthyosis, penis 1.2 cm,  no palpable right testis and inguinal left testis that required orchiopexy. Delay maturation. Results of hCG and GnRH stimulation tests confirmed the diagnosis of hipogonadotropic hypogonadism. Exogenous testosterone was started at age 14 yr. At age 17,4 yr presented a height -1.64 SDS, small testes, adult external genitalia, and mental retardation. Genetics findings of  patient: 46,Y,der(X)t(X;Y)(p22.3;q11.2)mat, Kal-, SRY+, Yqh++, and mother: 46,X,der(X)t(X;Y)(p22.3;q11.2). Yqh+, Kal -/+.  Conclusion: We conclude that  patient´s phenotype is due to a contiguous gene deletion located in the distal portion of Xp22.