The<unk>  or Pasqualini syndrome is a cause of hypogonadotropic hypogonadism caused by a luteinizing hormone deficiency. It is characterized by hypogonadism with spermatogenesis. Pasqualini and Bur published the first case of<unk> oidism with preserved spermatogenesis in 1950 in la Revista de la Asociación Médica Argentina. The hypoandrogenism with spermatogenesis syndrome included: (a)<unk> oidism, (b) testis with normal spermatogenesis and full volume, with mature spermatozoids in a high proportion of seminiferous tubes and undifferentiated and immature Leydig cells (c) full functional compensation through the administration of chorionic gonadotropin hormone, while hCG is administered (d) total urinary gonadotrophins within normal limits (e) this definition implies the normal activity of the pituitary and the absence of congenital malformations in general. In describing five other similar cases in 1953, Mc Cullagh & al coined the term<unk><unk>  introducing it in the English literature. Unfortunately, this term is incorrect and should not be employed. Indeed, these patients are not really<unk> s. Moreover, as it will be explained later, they are not usually<unk>  if not treated. A first step in the understanding of the physiopathology of Pasqualini syndrome was the absence of Lutheinizing Hormone (LH) in plasma and urine of patients. The second breakthrough was the functional and genetic studies that validated the hypothesis of a functional deficit of LH in these men. Inactivating LH mutations will then also be described in some women. Different groups demonstrated in these cases a LH with varying degrees of immunological activity but biologically inactive in most of the patients, due to one or more inactivating mutations in the LHB gene. Finally, the full comprehension of Pasqualini syndrome allowed to reverse the hypoandrogenic phenotype and to restore<unk> ty in these patients through the use of chorionic gonadotropin and the modern in-vitro<unk> ty techniques
Fertile eunuch syndrome
Malouf syndrome
Turner syndrome
Omenn syndrome
Angelman syndrome
Gitelman syndrome
XX male syndrome
Parsonage–Turner syndrome