An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction

Abstract

A white girl presented at age 16 yr with delayed puberty and primary amenorrhea. She had 46 chromosomes with a de novo reciprocal X;9 translocation. The normal X chromosome was found to be heterochromatic, thus preserving the function of the translocation portion of the 9. Her total estrogen and serum estradiol levels were low and her serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were at the lower end of the normal adult range. She had a reasonably good FSH and LH response to GnRH, but an inadequate response to 100 mg of clomiphene daily for 1 wk. This would suggest that the abnormality of function is probably hypothalamic, a hitherto unreported association. De novo translocations between X chromosomes and autosomes are rare and none identical to this case has been described. The breakpoint of the X chromosome was at p22, well outside the "critical region" for female reproductive function. It seems probable that her chromosome abnormality is responsible for her clinical state.

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 cases

“…l k o other translocations at Xq22 with normal phenotype were previously reported by Madan [1983]. Patracchini et al, 1989Francke, cited by Carpenter, 1983Turleau, cited by Carpenter, 1983Zabel, cited by Carpenter, 1983Gardner et al, 1983 Bartsch-Sandhoff, cited by Mohandas et al, 1981;Lebo, cited by 1988Lebo, cited by /1989 Catalogue of Cell Lines Palmer, cited by Mattei et al, 1983Distkche et al, 1984 Thelen, cited by Nakagome, 1982;Mattei et al, 1983 Mattei, cited by Couturier andDutrillaux, 1983;Elejalde andde Elejalde, 1983 Hida, cited by Ejima et al, 1982 Cross, cited by Nichols et al, 1980;Mohandas et al, Ropers et al, 1982Lindenbaum, cited by Carpenter, 1983Boyd et al, Verellen, cited by Carpenter, 1983 Greenstein, cited by: Mattei et al, 1982;Zatz et al, 1981Bjerglund Nielsen et al, 1983Bjerglund Nielsen and Nielsen 1984Emanuel, cited by Carpenter, 1983 Nevin, cited by Boyd et al, 1986 Saito, cited by Boyd et al, 1986 Bjerglund-Nielsen, cited by Boyd et al, 1986. Jacobs, cited by Carpenter, 1983Cata-Ribeiro et al, 1986 Canki, cited by Mattei et al, 1983Hagemeijer, cited by Mattei et al, 1983 Laurent, cited by Mattei et al, 1983 Narazaki, cited by Boyd et al, 1986Hagemeijer, cited by Carpenter, 1983Leichtman, cited by Carpenter, 1983Buckton et al, 1971Couturier and Dutrillaux, 1983;…”

Cytogenetic evaluation of patients with clinical spectrum of Turner syndrome

“…X-autosome translocations are frequently associated with primary or secondary ovarian failure and at times TS-like features. [23] Pericentric inversion in chromosome 9 is a common heteromorphism in general population. However, in this study, two girls were found to have 46,XX, inv(9qh), and one patient with autosomal translocation of chromosome 12 and 14 that is 45,X/46XX,t(12;14).…”

A Dominant X-Linked QTL Regulating Pubertal Timing in Mice Found by Whole Genome Scanning and Modified Interval-Specific Congenic Strain Analysis

“…In 1983, Gardner reported that a white girl, having 46 chromosomes with a de novo reciprocal X:9 translocation, presented at the age of 16 with delayed puberty and primary amenorrhea [34]. Twenty years later, Talaban reported two brothers with hypogonadotropic hypogonadism (HH), obesity and short stature associated with a maternally inherited pericentric inversion (X) (p11.4q11.2) [35].…”