Genes of the DAZ family play critical roles in germ cell development in mammals and other animals. In mice, Dazl mRNA is first observed at embryonic day 11.5 (E11.5), but previous studies using Dazl-deficient mice of mixed genetic background have largely emphasized postnatal spermatogenic defects. Using an inbred C57BL/6 background, we show that Dazl is required for embryonic development and su...

OBJECTIVE Y-chromosome gonadal dysgenesis (GD) is a rare subgroup of disorders of sexual development (DSD) which results from underdeveloped testis and may exhibit heterogenous symptoms. These patients are phenotypically classified into two groups - complete and partial, and their karyotypic description is either 46,XY GD or 45,X/46,XY GD. In this study; we aimed to evaluate the characteristics...

Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965). The term 'XY gonadal dysgenesis' refers to patients with pure gonadal dy...

We investigate the coefficients generated by expressing the falling factorial (xy) as a linear combination of falling factorial products xy for l, m = 1, . . . , k. Algebraic and combinatoric properties are discussed, some in relation to Stirling numbers.

We extend the geometric study of the Wasserstein space W2(X) of a simply connected, negatively curved metric space X by investigating which pairs of boundary points can be linked by a geodesic, when X is a tree. Let X be a Hadamard space, by which we mean that X is a complete globally CAT(0), locally compact metric space. Mainly, X is a space where triangles are “thin”: points on the opposite s...

Let P := k [X,Y, Z] be a polynomial ring over an algebraic closed field k and (X, Y , Z, XY Z, XY Z ) · k [X,Y, Z] an (X,Y, Z)-primary ideal in P , (m, n, l, a, b, c, d, e, f are integers). The ideal Q=(X, Y , Z, XY Z, XY Z ) ·R is (X,Y, Z) · R-primary ideal in the local ring R = k [X,Y, Z](x,y,z). In this short note we give a formula for the calculation of Samuel multiplicity e0(Q,R) of the id...

Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) "four core genotypes" mice, comprising XX and XY gonada...

The randomly diluted resistor network and XY model at low temperature T are studied near the d-dimensional percolation threshold using the ɛ expansion, where ɛ=6-d. The series expansion of the inverse susceptibility in powers of T for the XY model is identical to that of the appropriate resistive inverse susceptibility in powers of σ0−1, where σ0 is the conductance of a bond. However, the tempe...

A rare form of the 46,XY disorders of sex development (DSD), 5a-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5a-reductase type 2 gene (SRD5A2), which encodes for 5areductase activity. Our registry of 750 patients with ...