Endocrine, sexual and reproductive functions in patients with Klinefelter syndrome compared to non‐obstructive azoospermic patients

Abstract

Klinefelter syndrome (KS) is the most common sex chromosomal disorder in men phenotypically. It is characterised by tall height, long legs relative to the body, atrophic-small testicles, feminine body structure and gynecomastia. Its prevalence is 1/650. 1 Newborns with KS are similar to healthy babies. 2 Classical testicular atrophy occurs with puberty. 3 Laboratory and clinical findings in adulthood are consistent with hypergonadotropic hypogonadism. High serum FSH level is the leading laboratory finding. The definitive diagnosis is made by karyotype analysis. Of the KS patients, 90% have nonmosaic 47, XXY, 10% 46, XY/47, XXY

Nomogram based on a circular RNA biomarker for predicting the likelihood of successful sperm retrieval via microdissection testicular sperm extraction in patients with idiopathic non-obstructive azoospermia

“…This may be because the abovementioned studies failed to exclude patients with Klinefelter syndrome (KS) and AZF c microdeletions. Patients in these latter two groups may exhibit less remarkable increases in FSH as well as a relatively higher success rate following sperm collection than those with iNOA ( 5 , 35 , 36 ). In contrast, our study excluded patients with KS and AZFc microdeletion, instead focusing on patients with iNOA, which is often associated with significantly elevated FSH levels and low sperm retrieval rates ( 36 , 37 ).…”

“…This may be because the abovementioned studies failed to exclude patients with Klinefelter syndrome (KS) and AZF c microdeletions. Patients in these latter two groups may exhibit less remarkable increases in FSH as well as a relatively higher success rate following sperm collection than those with iNOA (5,35,36). In contrast, our study excluded patients with…”