Sex chromosomes-linked single-gene disorders involved in human infertility

Human infertility is a healthcare problem that has a worldwide impact. Genetic causes of human infertility include chromosomal aneuploidies and rearrangements and single-gene defects. The sex chromosomes (X and Y) are critical players in human fertility since they contain several genes essential for sex determination and reproductive traits for both men and women. This paper provides a review of the most common sex chromosomes-linked single-gene disorders involved in human infertility and their corresponding phenotypes. In addition to the Y-linked SRY gene, which mutations may cause XY gonadal dysgenesis and sex reversal, the deletions of genes present in AZF regions of the Y chromosome (DAZ, RBMY, DBY and USP9Y genes) are implicated in varying degrees of spermatogenic dysfunction. Furthermore, a list of X-linked genes (KAL1, NR0B1, AR, TEX11, FMR1, PGRMC1, BMP15 and POF1 and 2 regions genes (XPNPEP2, POF1B, DACH2, CHM and DIAPH2)) were reported to have critical roles in pubertal and reproductive deficiencies in humans, affecting only men, only women or both sexes. Mutations in these genes may be transmitted to the offspring by a dominant or a recessive inheritance.     

Factor V deficiency and pregnancy: a case report

The factor V deficiency is a very rare hereditary disease of the coagulation, which is accompanied by a high hemorrhagic risk in the event of delivery and in the post-partum. We report the case of a woman having a factor V deficiency which had a pregnancy, and which gave birth by Cesarean, as replacement therapy we proposed the transfusion of 20?mL/kg of fresh frozen plasma before surgery and of 5?mL/kg by 12?h during 7 days in post-partum, this attitude allowed to avoid the hemorrhagic complications.     

Giant condyloma (Buschke-Löwenstein tumor). A case report

Buschke-L?wenstein tumor (BLT), or giant condyloma acuminatum, is a rare sexually transmitted disease. The virus responsible for condyloma is human papillomavirus, usually serotype 6 or 11. A BLT is always preceded by condyloma acuminatum and may occur at any age after puberty. It is characterized by invasive growth and recurrence after treatment, and malignant transformation is possible. We report the case of a 44-year-old male patient with a 2-year history of a penoscrotal Buschke-L?wenstein tumor.     

Pallister–Hall syndrome diagnosed in a young man after an acute adrenal crisis

Pallister–Hall syndrome (PHS) is a very rare genetic disorder. The diagnosis is usually suspected at the young age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are mostly related to hypothalamic hamartoma and rarely reveal the disease. We report the case of an 18‐year‐old young man in whom the diagnosis of PHS was delayed until his hospitalization in the endocrinology department for acute adrenal insufficiency.