Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study

Abstract

A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. Chromosome analysis showed mosaicism for an isodicentric (idic) (Y)(q11.23) containing cell line and a 45,X cell line. Subsequent gonadectomy revealed a left streak ovary and a right ovary of abnormal appearance, which on histological examination appeared to contain a gonadoblastoma. DNA analysis showed that the proposed critical region of the gonadoblastoma locus on the Y chromosome was contained within the patient's idic (Y). Conclusion. The case described here shows that patients with 45,X/46,X, isodicentric (Yp) mosaicism and a female phenotype (1) can lack external virilisation but still have a gonadoblastoma and (2) do not necessarily have Turner stigmata but can present with only short stature. This case also underlines the importance of karyotyping patients with unexplained short stature to enable gonadectomy if Y-derived material is detected.

Complete XY gonadal dysgenesis and aspects of the SRY genotype and gonadal tumor formation

“…Five genes (amelogenin Y, RNA-binding Y, protein kinase Y, protein tyrosine phosphatase-related Y, and testisspecific protein Y-encoded) residing on that small region are candidates for GBY (Vogt et al 1997;Lahn and Page 1997;Lau and Zhang 2000). A patient with an idic(Y)(q11.23) karyotype that preserved the critical region of GBY showed gonadoblastoma formation (Giltay et al 2001), supporting the interpretation of GBY as an oncogene that affects gonadal tumor formation.…”

Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis

“…Moreover, the presence of spermatogenesis controlling genes (AZF) in this patient could play an important role in gonadal development and in the differentiation into a phenotypic female with some Turner stigmata (Bergendi et al, 1997;Jenderny et al, 1998;Robinson et al, 1999, Giltay et al, 2001.…”

Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype

“…The high percentage of the 46,X,der(Y)(q11) cell line in a tissue in blood with its high turnover in this case as well as in our patient is surprising, and is in contrast to the findings in other cases with numerical chromosomal mosaicism. Recently, Giltay et al [2001] described a 13-year-old female patient with short stature, gonadoblastoma, and a mos 45,X,inv(10)(p11.2q21.2)/46,X,idic(Y)(q11.23)inv (10) (p11.2q21.2)/47,X,idic(Y)(q11.23)inv(10) (p11.2q21.2) karyotype. At least one idic(Y) was found in 64% and 84% of cells from lymphocyte cultures.…”