Endocrine Abstracts

BackgroundPolycystic Ovary Syndrome (PCOS) is the most prevalent endocrine disorder in women of reproductive age. The main components are hyperandrogenemia and oligo-/amenorrhea. The pathophysiology of PCOS is not fully understood which is why no causal treatment options are available. A multitude of observational studies demonstrated elevated C-reactive protein (CRP) levels in patients with PCOS compared with weight-matched controls. CRP is a sensitive ...

Of 563 genes involved in multiple processes of development of hypothalamo-pituitary-gonadal (HPG) axis during embryogenesis, mutations in 62 genes cause delayed puberty. We selected 6 of 37 delayed puberty patients for whole exome sequencing (WES) based on advanced age (>18 years) and severity of disease symptoms. Genomic DNA extraction was done using Qiagen kit at Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan. DNA samples were taken to ANZAC Researc...

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by impairment of pubertal development, that can be associated with hypo/anosmia (Kallmann Syndrome, KS) or normosmia (nCHH). A genetic basis can be identified in nearly 50% of cases, with increasingly common detection of oligogenicity. CHH has a strong male predominance (MtoF ratio 5–3:1), although sex ratio for CHH in families with autosomal inheritance has been proven to be close to equal....

ObjectivePrevious studies have documented poor fertility results in women with hypopituitarism (HP) both in terms of pregnancy rates and outcomes. We aimed to assess ovulation induction (OI) and pregnancy outcomes in women with HP compared to women with hypogonadotrophic hypogonadism (HH) treated at University College London Hospitals.DesignA retrospective study.Patients<p class="ab...

Puberty onset is sensitive to the energy reserves of the organism, especially in females where there is an association between obesity and early puberty. Studies have shown that in the presence of growth hormone secretagogue receptor 1a (GHSR1a) mutations, there is a decrease in ghrelin-mediated appetite, resulting in relatively low BMI, which contributes to the delayed onset of puberty. Furthermore, delayed puberty is observed in clinical conditions associated with low IGF1, ...

IntroductionEven in healthy men, androgen levels start decreasing from early adulthood and these decreases are more pronounced in men with an increasing body mass index (BMI). It is, however, unclear to what extent changes in other indices of body composition and metabolic health are associated with changes in sex steroid exposure in healthy men over time.ObjectiveInvestigating longitudinal changes in body co...