Klinefelter syndrome: more than hypogonadism
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and>70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing.
AbstractAim of testosterone replacement therapy (TRT) is to improve symptoms and signs of testosterone deficiency including decreased libido, erectile dysfunction, depressed mood, anaemia, loss of muscle and bone mass, by increasing serum testosterone levels to physiologic range. TRT has been used in the last 70 years and overtime, numerous preparations and formulations have been developed to improve pharmacokinetics (PKs) and patient compliance. The routes of delivery approved for use in western world include buccal, nasal, sub dermal, transdermal, and intramuscular (IM). The aim of this narrative review is to describe an...
Condition: Hypogonadism Intervention: Drug: AndroGel 1.62% Sponsor: AbbVie Not yet recruiting
This article mainly focuses on emphasizing the results of basic histo-anatomical differences of male and female breasts, classifying male breast lesions, covering the spectrum of male breast diseases, and assisting radiologists in recognizing the imaging findings, in interpreting them through a holistic approach, in making a differential diagnosis, and in being a part of proper patient management.
Condition: Infertility, Female Interventions: Other: Diet Intervention - Group 1; Other: Exercise Intervention - Group 1 Sponsor: Arkansas Children's Hospital Research Institute Not yet recruiting
Cystic fibrosis (CF) is a life-shortening recessive disorder caused by mutations in both alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene . CFTR codes for an ion channel that mediates chloride transport across epithelial cell membranes. Mutations resulting in CFTR dysfunction cause chronic obstructive lung disease, intestinal obstruction syndromes, liver dysfunction, exocrine and endocrine pancreatic dysfunction, and male infertility [1,2]. CFTR is a complex, multidomain, membrane-spanning protein that undergoes highly regulated folding and trafficking post-biosynthesis to be functionally m...
CONCLUSIONS: KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established. PMID: 26709348 [PubMed - as supplied by publisher]
Conclusions KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established.