Endocrine Abstracts

Azoospermia is a common condition of about 10% of all infertile men and this most severe clinical phenotype of male infertility can – in an otherwise healthy man – regularly be considered to have a genetic basis. An association of chromosomal aberrations and Y-chromosomal AZF-deletions with spermatogenic failure is well-established. However, since the latter were described over 10 years ago, basically no genetic causes have been found although many re-sequencing stud...

Introduction: FSH is a key player in reproductive functions, the expression of its unique subunit FSHB is regulated by the FSHB promoter. Recently, a single nucleotide polymorphism (SNP) at a highly conserved position in the FSHB promoter (rs10835638; −211G>T) has been found to be associated with decreased serum FSH levels in men and with male infertility. Because to date no information is available on possible endocrine consequences of this SNP in women, we conducte...

Introduction: Y-chromosomal azoospermia factor (AZF) microdeletions are one of the few well-established genetic causes of male infertility, specifically azoospermia or severe oligozoospermia. Since the introduction of a PCR-based method to easily detect the distinct deletion patterns, the screening of infertile men for Y microdeletions has become a very common genetic test performed frequently by a large number of laboratories. An external quality control scheme was establishe...

Background and Aim: Klinefelter syndrome (47,XXY; KS) is a very common chromosomal disorder, affecting 1:600 men. Klinefelter men have been described to exhibit clinically relevant metabolic patterns related to a pro-inflammatory status, resulting in a high prevalence of insulin resistance and cardiovascular impairment. Testosterone deficiency in form of primary hypogonadism is a common feature in these men.EXAKT (epigenetics, X-chromosomal features and ...

Introduction: Recently, a single nucleotide polymorphism (SNP) in the FSH (FSH)-β gene (FSHB −211G>T, rs10835638) that leads to reduced mRNA transcription was associated with serum FSH levels in an Estonian cohort of young men (Grigorova et al., Hum Reprod 2008). Further investigations showed an increased frequency of the T-allele in patients with oligozoospermia compared to men with normozoospermia (Grigorova et al., JCEM 2010). Another Bal...

Background: Patients thyroidectomized for thyroid cancer need variable doses of levothyroxine (LT4) to obtain TSH suppression. A predetermined thyroid function set-point for each individual has been hypothesized, suggesting a genetic influence in the regulation of pituitary-thyroid axis. We hypothesized of the TRHR gene could be associated with a different hypothalamo-pituitary sensitivity to the negative feedback of the thyroid hormones.<p class=...