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.
Source: Metabolism - Clinical and Experimental - Category: Biomedical Science Authors: Source Type: research

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CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Tvrdá E, Michalko J, Árvay J, Vukovic NL, Ivanišová E, Ďuračka M, Matušíková I, Kačániová M Abstract Schisandra chinensis is a woody vine native to China, Korea, and Russia, which has been used as a traditional herbal remedy to treat male infertility. As very little information is available concerning its effects on ejaculated spermatozoa, the aim of this study was to investigate the chemical, antioxidant, and antibacterial properties of the S. chinensis berry (Omija) extract followed by an assessment of its in vitro effects on bovine sperm ...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
AbstractBackgroundThe American Society of Clinical Oncology guidelines recommend early referral to reproductive endocrinology and infertility (REI) specialists for young women diagnosed with breast cancer. Current practice patterns demonstrate an increased utilization of neoadjuvant chemotherapy (NAC). We evaluated premenopausal women with breast cancer after consultation with a Fertility Nurse Specialist (FNS) and determine factors associated with referral to REI specialists.MethodsThis retrospective review included all premenopausal women diagnosed at our institution with stage 0 –III unilateral breast cancers betw...
Source: Annals of Surgical Oncology - Category: Cancer & Oncology Source Type: research
Over the last years, increasing evidence has focused on crucial pathogenetic role of PRL on malignant, premalignant and benign uterine diseases. Studies in animals and humans have documented that PRL receptors (PRL-Rs) are widely expressed on uterine cells and that PRL is directly synthesized by the endometrium under the stimulatory action of progesterone. Uterine PRL secretion is finely modulated by autocrine/paracrine mechanisms which do not depend on the same control factors implied in the regulation of PRL secretion from pituitary. On the other hand, PRL is synthesized also in the myometrium and directly promotes uteri...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
AbstractThe conspicuous absence of personal articulations of miscarriage in mainstream discourses attests to the stigmatised nature of the experience. Notably, there exists a growing body of infertility comics which foreground the authors ’ lived realities of miscarriage. In a close reading of select graphic memoirs such as Jenell Johnson’sPresent/Perfect, Paula Knight ’sThe Facts of Life, Phoebe Potts ’Good Eggs, and Diane Noomin ’sBaby Talk, this article examines how the authors use comics to foreground their predicament. In so doing, the essay argues that these narratives attempt to accord ...
Source: Journal of Medical Humanities - Category: Medical Ethics Source Type: research
In conclusion, the vaginal virome was clearly linked with bacterial community structure and BV-status.
Source: Viruses - Category: Virology Authors: Tags: Article Source Type: research
ConclusionPartial-AZFc deletions in a Chilean admixed population are associated with secretory azo/oligozoospermia and might have a role in the development of hypospermatogenesis. Low represented haplogroups, Y-hg M and Y-hg H, show an association with the occurrence of spermatogenic failure and gr/gr deletions respectively; however, additional studies are required.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research
Semin Reprod Med DOI: 10.1055/s-0040-1716687Adenomyosis is a common disorder of the uterus, and is associated with an enlarged uterus, heavy menstrual bleeding (HMB), pelvic pain, and infertility. It is characterized by endometrial epithelial cells and stromal fibroblasts abnormally found in the myometrium where they elicit hyperplasia and hypertrophy of surrounding smooth muscle cells. While both the mechanistic processes and the pathogenesis of adenomyosis are uncertain, several theories have been put forward addressing how this disease develops. These include intrinsic or induced (1) microtrauma of the endometrial&ndash...
Source: Seminars in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Review Article Source Type: research
CONCLUSIONS: KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established. PMID: 26709348 [PubMed - as supplied by publisher]
Source: Reproductive Biology - Category: Reproduction Medicine Authors: Tags: Reprod Med Biol Source Type: research
Conclusions KS patient-derived iPS cells that could differentiate into cardiomyocyte-like cells were established.
Source: Reproductive Medicine and Biology - Category: OBGYN Source Type: research
More News: Azoospermia | Biomedical Science | Gynecomastia | ICSI (Intracytoplasmic Sperm Injection) | Infertility | Klinefelter's Syndrome | Low Testosterone | Reproduction Medicine