Mixed gonadal dysgenesis
in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?
The frequency of ovotesticular DSDs is 1: 100,000 live births and that of testicular or mixed gonadal dysgenesis
is 1: 10,0009.
To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation including gonadal dysgenesis
. This leads to raise the question of the relationship between the monosomy X and translocation and if balanced translocation might have influenced nondisjunction of the X chromosome.
Short fourth and fifth metacarpals and metatarsals are seen in pseudo-pseudohypoparathyroidism, gonadal dysgenesis
(Turner's syndrome/chromosomal disorder 45XO), pseudohypoparathyroidism and familial brachydactylism, with hypogonadism being associated with the first two conditions (6).
Women with gonadal dysgenesis
should have a bilateral salpingo-oophorectomy, and those beyond childbearing should undergo a total hysterectomy, with bilateral salpingo-oophorectomy and appropriate staging.
Considering those 15 cases that were initially registered as male and were reassigned as female, seven had 46,XX ovarian DSD due to congenital adrenal hyperplasia, four had mixed gonadal dysgenesis
, three had ovotesticular DSD, and one had 46,XY idiopathic testicular DSD.
These disorders include ovotesticular DSD, persistent Mullerian duct syndrome, gonadal dysgenesis
(internal reproductive structure is inconsistent with external genital appearance), chromosomal abnormalities (such as Turner syndrome [45,XO], Klinefelter syndrome [47,XXY], and 46,XY/ 45,XO mosaicism), and single gene mutations related to testicular development, such as SRY, ST1, SF1 (the sex-determining gene on the Y chromosome) (Mastrandrea et al., 2011; Warne & Raza, 2008).
So-called 'pure gonadal dysgenesis
' may be of the XX or XY type, or mixed, in which XX and XY cell lines appear.
Clinical and pathologic spectrum of 46,XY gonadal dysgenesis
: Its relevance to the understanding of sex differentiation.
and abnormalities of human sex chromosomes: current status of phenotypic-karyotypic correlations.
For patients with XY gonadal dysgenesis
, this means earlier detection and treatment of tumors.
However, Mullarian agenesis is the second commonest cause of primary amenorrhoea after gonadal dysgenesis
, accounting for about 15% of cases.3