The testis is an important male reproductive organ, which ensures reproductive function via
the secretion of testosterone and the generation of spermatozoa. Testis development begins …

A complete gonadal dysgenesis (CGD) with 46, XY karyotype is known as the Swyer
syndrome and belongs to the group of 46, XY differences of sex development (DSD). The …

Introduction: Bone morphogenetic proteins (BMPs) play a crucial role in bone formation and
differentiation. Recent RNA-Seq results suggest that BMPs may be involved in the sex …

Karyotype 46, XY female disorders of sex development (46, XY female DSD) are congenital
conditions due to irregular gonadal development or androgen synthesis or function issues …

Objective Heterozygous loss-of-function variants in the NPR2 gene cause short stature with
nonspecific skeletal abnormalities and account for about 2~ 6% of idiopathic short stature …

Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many mutant
genes causing rare forms of deafness remain to be discovered. A consanguineous Pakistani …

Background Isolated growth hormone deficiency type II (IGHD II) is an autosomal dominant
disorder characterized by a GH1 gene variant resulting in a significant reduction in growth …

Introduction: The MAPK genes are critical for gonadal differentiation in eutherian mammals,
but their role in marsupial mammals is unknown. Characterisation and phylogenetic …

Hypospadias, characterized by abnormal position of the urethral opening, is the second
most common congenital anomaly in men. Its incidence is increasing year by year, and it …

Deafness in vertebrates is associated with variants of hundreds of genes. Yet, many genes
causing rare forms of deafness remain to be discovered. Microarrays and exome …