45,X/46,X,i(Yp): Importance of Assessment and Support during Puberty and Adolescence

We describe a detailed evolution of puberty in a boy with 45,X/46,X,i(Yp). Array CGH found 2 cell lines, one with i(Yp) and the other with monosomy X. Genetic analysis of currently known genes involved in Kallmann syndrome/normosomic central hypogonadotropic hypogonadism showed no abnormality. The patient presented with a pubertal course suggestive of a delayed puberty with gynecomastia, reduced growth rate, and infertility that need testosterone treatment to induce the appearance of the secondary sex characteristics. This patient shows the potential effects of i(Yp) and emphasizes the importance of appropriate management of puberty in people with 45,X/46,X,i(Yp). Early hormone treatment, concerns regarding fertility, emotional support, and a successful transition to adult care may help improve the physical and psychosocial well-being of affected patients.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research

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We describe a detailed evolution of puberty in a boy with 45,X/46,X,i(Yp). Array CGH found 2 cell lines, one with i(Yp) and the other with monosomy X. Genetic analysis of currently known genes involved in Kallmann syndrome/normosomic central hypogonadotropic hypogonadism showed no abnormality. The patient presented with a pubertal course suggestive of a delayed puberty with gynecomastia, reduced growth rate, and infertility that need testosterone treatment to induce the appearance of the secondary sex characteristics. This patient shows the potential effects of i(Yp) and emphasizes the importance of appropriate management ...
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research
Abstract Testicular volume (TV) is proposed to be a positive predictor of male fertility status, because of the relation known between the TV and the seminiferous tubule content. Independently of the measurement methodology, the role of TV and testicular ultrasound (US) assessments is still debated in andrological clinical practice. In this retrospective cohort study, we evaluated TV and testis US role in the diagnostic workup of andrological patients. All consecutive outpatients undergoing single-operator testis US (Modena, Italy) from March 2012 to March 2018 were enrolled, matching sonographic, hormonal, and se...
Source: Asian Journal of Andrology - Category: Urology & Nephrology Authors: Tags: Asian J Androl Source Type: research
Muffin tops, man boobs, and bagel bumps: These are among the varied and perverse ways that the hormonal distortions inflicted on unwitting humans who consume the seeds of grasses, i.e., grains, show themselves. In our modern world filled with thousands of processed foods, there are plenty of landmines for health. Gummy bears and gumdrops will rot teeth, for instance. Indulge in a handful of dried prunes and you’ll have to schedule a substantial portion of your day on the toilet due to bowel irritants. But only wheat and grains are associated with a wide swath of health problems that range from autoimmune disease to m...
Source: Wheat Belly Blog - Category: Cardiology Authors: Tags: News & Updates grain-free gynecomastia man boobs man breasts testosterone undoctored wheat belly Source Type: blogs
Because it has become such a frequent item in everyday meals, suggesting that something so commonplace must be fine, people often ask: Is wheat really that bad? Let’s therefore catalog the health conditions that are associated with wheat consumption. Health conditions we know with 100% certainty are caused by consumption of wheat and related grains: Celiac disease, dermatitis herpetiformis, cerebellar ataxia, “idiopathic” peripheral neuropathy, temporal lobe seizures, gluten encephalopathy, type 1 diabetes, rheumatoid arthritis, autoimmune hepatitis, autoimmune pancreatitis, tooth decay Health conditions ...
Source: Wheat Belly Blog - Category: Cardiology Authors: Tags: News & Updates autoimmune diabetes gluten-free grain-free grains wheat wheat belly Source Type: blogs
Klinefelter syndrome (KS) is a highly prevalent sex chromosome aneuploidy condition that affects up to 1 in 450 male births (Herlihy et al., 2011). The majority of affected males exhibit a 47,XXY karyotype, although more than one supernumerary X chromosome is sometimes observed (Rey et al., 2011, Boada et al., 2009). The physical phenotype typically includes tall stature, hypogonadism, reduced testosterone, infertility and gynecomastia. Features comprising the behavioral phenotype include mood symptoms and deficits in specific domains of cognitive function, predominantly language, learning and memory, and executive functio...
Source: Psychoneuroendocrinology - Category: Psychiatry Authors: Source Type: research
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
Discussion Klinefelter syndrome (KS) is a common genetic abnormaly with a prevalence of 1 in ~650 male births. It was first described in 1942 by Dr. Harry Klinefelter. It is associated with at least one extra X chromosome with the most common karyotype (~80% of patients) being 47 XXY. Other karyotypes are seen along with mosaicism. It is believed that although it is very prevalent, only about 25-33% of people with KS are identified. About 10% are identified before puberty with the rest usually identified because of hypogonadism and tall stature especially in teenage years or due to infertility in adulthood. KS is diagnosed...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Dinesh Pradhan, Lileswar Kaman, Jasreman Dhillon, Sambit K MohantyJournal of Cancer Research and Therapeutics 2015 11(4):1034-1034 Klinefelter syndrome (KS) is a well-documented abnormality of the sex chromosome, with an incidence of 1 in 600 newborn males. It is characterized by a 47, XXY or a mosaic karyotype, hypergonadotrophic hypogonadism, infertility, reduced body hair, gynecomastia, and tall stature. Different neoplasms such as breast, testicular, and lymphoreticular malignancies may occur in 1% to2% of the cases with KS. Herein we describe a case of mediastinal mixed germ cell tumor (GCT) in a 40-year-old ...
Source: Journal of Cancer Research and Therapeutics - Category: Cancer & Oncology Authors: 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
Klinefelter syndrome (KS) is the leading genetic cause of primary hypogonadism and infertility in men. The clinical phenotype has expanded beyond the original description of infertility, small testes, and gynecomastia. Animal models, epidemiologic studies, and clinical research of male subjects with KS throughout the lifespan have allowed the better characterization of the variable phenotype of this condition. This review provides an overview on what is known of the epidemiology, clinical features, and pathophysiology of KS, followed by a more focused discussion of testicular development and the clinical management of hypo...
Source: Endocrinology and Metabolism Clinics of North America - Category: Endocrinology Authors: Source Type: research
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