• Klinefelter Syndrome Klinefelter syndrome is a relatively common chromosomal abnormality characterized by hypogonadism, azoospermia, and elevated gonadotropin levels in association with a 47,XXY karyotype. (health.am)
  • The classical forms of hypogonadism are comprised of primary testicular failure or insufficient testicular stimulation due to the lack of pituitary gonadotropins. (naturemedclinic.com)
  • Typical causes of primary hypogonadism are Klinefelter's syndrome, anorchia or acquired disturbances of testicular function. (naturemedclinic.com)
  • The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 - with Kallmann syndrome (KS), 8 with normosmic isolated h. (endocrine-abstracts.org)
  • Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism and infertility. (medscape.com)
  • The syndrome is characterized by hypogonadism (small testes, azoospermia, oligospermia), gynecomastia in late puberty, psychosocial problems, hyalinization and fibrosis of the seminiferous tubules, and elevated urinary gonadotropin levels. (medscape.com)
  • Whether the morbidity associated with Klinefelter syndrome is a result of hypogonadism and hyperestrogenism or due to abnormal function of X chromosome linked genes is unclear. (medscape.com)
  • Klinefelter syndrome is the most common genetic form of male hypogonadism. (medscape.com)
  • Hypogonadism can result from testicular causes or pituitary/hypothalamus causes. (datamax.org)
  • Laboratory values reflect hypergonadotropic hypogonadism consistent with testicular agenesis. (scirp.org)
  • Commonly, such men do not demonstrate anatomical hypothalamic-pituitary-testicular axis pathology but have functional hypogonadism that is potentially reversible. (medscape.com)
  • [ 1 , 2 ] Hypogonadism that is caused by intrinsic structural, destructive, or congenital pathology of the hypothalamic-pituitary-testicular (HPT) axis (such as pituitary tumor or Klinefelter syndrome) is referred to as organic (also termed classical) hypogonadism (Fig. 1). (medscape.com)
  • Classic Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) are rare genetic conditions that encompass the spectrum of isolated hypogonadotropic hypogonadism. (medscape.com)
  • By definition, either anosmia (lack of sense of smell) or severe hyposmia is present in patients with Kallmann syndrome, in contrast to patients with idiopathic hypogonadotropic hypogonadism, whose sense of smell is normal. (medscape.com)
  • MRI of the brain in patients with Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH). (medscape.com)
  • Deficient hypothalamic GnRH secretion underlies the markedly abnormal gonadotropin secretion patterns in most patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Some of the genes involved in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism have been identified. (medscape.com)
  • [ 3 ] In addition, mutations of the gene encoding chromodomain-helicase DNA-binding protein 7 ( CHD7 ) have been found in some patients with Kallmann syndrome or idiopathic hypogonadotropic hypogonadism, some of whom have features of the CHARGE syndrome (characterized by delayed growth and development, congenital cardiac defects, dysmorphic ears, hearing loss, coloboma of the eyes). (medscape.com)
  • Loss-of-function mutations of critical components of the prokineticin pathway have been implicated in the pathogenesis of Kallmann syndrome and idiopathic hypogonadotropic hypogonadism. (medscape.com)
  • Testosterone is determined in men when reduced testosterone production is suspected, e.g., in hypogonadism, estrogen therapy, chromosome aberrations (as in the Klinefelter's syndrome) and liver cirrhosis. (cdc.gov)
  • Men who have a testicle that never descended are at greater risk of testicular cancer than are men whose testicles descended normally. (thecancerspecialist.com)
  • Conditions that cause testicles to develop abnormally, such as Klinefelter syndrome , may increase your risk of testicular cancer. (thecancerspecialist.com)
  • Who is at risk of testicular cancer? (dbclinic.com.sg)
  • While doing so will not lower your risk of testicular cancer, it can lead to early diagnosis of the disease and in turn increase the chances of successful treatment. (dbclinic.com.sg)
  • Gurney J, Shaw C, Stanley J, Signal V, Sarfati D. Cannabis exposure and risk of testicular cancer: a systematic review and meta-analysis. (epnet.com)
  • Klinefelter syndrome may first be diagnosed when a man comes to their health care provider because of infertility. (medlineplus.gov)
  • If you have Klinefelter syndrome and wish to have children, it's a good idea to work with an infertility specialist. (medlineplus.gov)
  • Another cause of male infertility is Klinefelter syndrome. (wikipedia.org)
  • In Klinefelter syndrome (KS) the topic of fertility vs. infertility is of major concern since that, until recent years, infertility was considered an untreatable condition in KS. (springer.com)
  • Due to chromosome aneuploidy, KS children undergo a progressive testicular impairment leading to spermatogenic failure and infertility (Foresta et al. (springer.com)
  • Infertility in patients with Klinefelter syndrome: optimal timing for sperm and testicular tissue cryopreservation. (springer.com)
  • Testicular biopsy is indicated in azoospermic men with a normal-sized testis and normal findings on hormonal studies to evaluate for ductal obstruction, to further evaluate idiopathic infertility, and to retrieve sperm. (medscape.com)
  • Many patients with extragonadal germ cell tumors have histories of infertility, and testicular biopsy in these patients shows various abnormalities, including decreased spermatogenesis, peritubular fibrosis, and interstitial edema. (health.am)
  • Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low. (wdxcyber.com)
  • New Approaches to Diagnosing Male Infertility, Part I: Microarray Analysis of Testicular Biopsy Specimens from Men with Intact and Impaired Spermatogenesis. (booksca.ca)
  • Subsequently the onset of puberty is associated with accelerated and progressive depletion of testicular germ cells, which may precede elevation in serum gonadotropin levels (Mehta and Paduch, Fertil Steril 98:274-283, 2012). (springer.com)
  • Wikstrom AM, Raivio T, Hadziselimovic F, Wikstrom S, Tuuri T, Dunkel L. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion. (springer.com)
  • Women who have Turner syndrome are shorter than normal, may not go through puberty in the usual way, and may have other medical problems. (kidshealth.org)
  • Most men with KS suffer from an early germ cell loss and testicular fibrosis from puberty onwards. (researchportal.be)
  • FSH/LH ratio is used for diagnosing polycystic ovarian syndrome (PCOS), menstrual irregularities, fertility problems, delayed or precocious puberty. (practo.com)
  • As earlier mentioned, Klinefelter's syndrome is not noticed until puberty which can come late if the male child has the syndrome. (premiumessays.net)
  • Foresta C, Galeazzi C, Bettella A, Marin P, Rossato M, Garolla A, Ferlin A. Analysis of meiosis in intratesticular germ cells from subjects affected by classic Klinefelter's syndrome. (springer.com)
  • Palermo GD, Schlegel PN, Sills ES, Veeck LL, Zaninovic N, Menendez S, Rosenwaks Z. Births after intracytoplasmic injection of sperm obtained by testicular extraction from men with nonmosaic Klinefelter's syndrome. (springer.com)
  • These disorders may be genetic, such as Klinefelter's syndrome, or acquired due to trauma , infection, reduced blood flow, or aging . (medicinenet.com)
  • This book presents the latest insights into all the critical aspects of Klinefelter's Syndrome, in order to promote a more homogeneous a medical approach to this condition, leading to better and more "evidence-based" support, and improving patient satisfaction. (stanford.edu)
  • Centerwall WR, Benirschke K: An animal model for the XXY Klinefelter's syndrome in man: tortoiseshell and calico male cats. (karger.com)
  • Abnormalities of the sperm production can be due to testicular failure (Y chromosome microdeletions or Klinefelter's syndrome), damage to the testes, toxins, radiation, infections, insufficient hormone production from the pituitary gland (FSH and LH) and use of androgenic compounds such as testosterone. (conceptionsrepro.com)
  • Klinefelter's syndrome is best described as a genetic condition that affects the male child only. (premiumessays.net)
  • Klinefelter's syndrome can also cause reduced muscle mass, facial hair, enlarged breast tissues and reduced body. (premiumessays.net)
  • The genetic variation of Klinefelter's syndrome cannot be reversed. (premiumessays.net)
  • Conditions like Klinefelter's syndrome, as a contributor to hormone imbalance symptoms. (prcpb.com)
  • Klinefelter syndrome, also called 47,XXY, is a genetic condition that occurs in males when they have an extra X chromosome. (medlineplus.gov)
  • Cryopreservation of testicular tissue is an experimental method being used to preserve fertility in pre-pubescent males, or males who cannot produce sperm, to allow them the option of having biological children. (wikipedia.org)
  • Klinefelter males are born with at least one extra X chromosome in each of their cells. (wdxcyber.com)
  • Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. (wdxcyber.com)
  • It's common, for example, for Klinefelter males to have less body or facial hair, and less muscle mass, than "normal" males. (wdxcyber.com)
  • On the other hand, a great many Klinefelter males look completely ordinary, and enjoy a healthy and normal sex life until the time comes to have children. (wdxcyber.com)
  • Moreover, there is a very, very small number of Klinefelter males who have managed to become biological fathers. (wdxcyber.com)
  • But testicular cancer is the most common cancer in American males between the ages of 15 and 44. (thecancerspecialist.com)
  • Effects of the syndrome will vary from one individual to another and not all the males portray the same symptoms and signs. (premiumessays.net)
  • PURPOSE: We sought to examine sperm retrieval and testicular histology in males of different ages with Klinefelter syndrome. (bvsalud.org)
  • MATERIALS AND METHODS: We identified all males with Klinefelter syndrome who underwent microdissection testicular sperm extraction at our institution from 1995 to 2020. (bvsalud.org)
  • In 1942, Klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. (medscape.com)
  • If a lump or some abnormalities are identified, your doctor will recommend an ultrasound of your testes to establish the exact size of the testicular tumor. (dbclinic.com.sg)
  • The diagnosis of Klinefelter syndrome is suspected based on physical examination of an adolescent with small testes and gynecomastia. (msdmanuals.com)
  • Congenital agonadism is also known as congenital anorchia, male gonadal agenesis, testicular agenesis, vanishing testes syndrome, regressed testes syndrome [1]. (scirp.org)
  • The patient denies any family history of testicular agenesis syndrome and has a brother with normal testes and male development. (scirp.org)
  • Testosterone USP is a white, or creamy white crystalline powder or crystals chemically described as 17ß-hydroxyandrost-4-en-3-one. (rxlist.com)
  • Because men with Klinefelter syndrome tend to have low testosterone, they may have some physical characteristics that make them stand out from other men. (wdxcyber.com)
  • Testicular failure may be diagnosed by elevated levels of FSH and/or LH along with low levels of testosterone. (conceptionsrepro.com)
  • The accumulation of iron can damage organs and adversely affect erectile strength, testicular function, and testosterone production. (datamax.org)
  • However, some studies have shown testosterone treatment stimulates penile growth and talk about the important role of testosterone trial in the treatment of micropenis which may present during different clinical syndromes and conditions [6]. (scirp.org)
  • Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland. (medscape.com)
  • Still, the majority of men who develop testicular cancer don't have a history of undescended testicles. (thecancerspecialist.com)
  • Note: You can still develop testicular cancer even if you do not have any known risk factors. (dbclinic.com.sg)
  • Plotton I, Giscard d'Estaing S, Cuzin B, Brosse A, Benchaib M, Lornage J, Ecochard R, Dijoud F, Lejeune H. Preliminary results of a prospective study of testicular sperm extraction in young versus adult patients with nonmosaic 47,XXY Klinefelter syndrome. (springer.com)
  • Aksglaede L, Skakkebaek NE, Almstrup K, Juul A: Clinical and biological parameters in 166 boys, adolescents and adults with nonmosaic Klinefelter syndrome: a Copenhagen experience. (karger.com)
  • Testicular germ cell tumors usually occur before the age of 4 years or in adolescents and young adults. (cigna.com)
  • Testicular germ cell tumors in adolescents (11 years and older) and young adults are different from those that form in early childhood. (cigna.com)
  • Acute testicular pain with no arterial flow on Doppler ultrasonography is highly consistent with testicular torsion. (bvsalud.org)
  • Quantified testicular histology in boys with sex chromosome abnormalities. (springer.com)
  • In addition, patients who are successfully treated for extragonadal germ cell tumors have a markedly increased risk of developing a subsequent testicular germ cell tumor. (health.am)
  • Tumor markers are substances that occur normally in your blood, but the levels of these substances may be elevated in certain situations, including testicular cancer. (thecancerspecialist.com)
  • Like most types of cancers, testicular cancer occurs when cells begin to multiply faster than normal, ultimately leading to the formation of either a tumor or a lump. (dbclinic.com.sg)
  • A testicular tumor is too solid, but light will pass through a mass or swelling caused by a hydrocele, which is fluid. (urologygroup.com)
  • Current first line treatment for fertility maintenance in men undergoing treatment which damages testicular tissue is cryopreservation of sperm. (wikipedia.org)
  • In boys yet to start producing sperm this is not possible, so cryopreservation of testicular tissue has been proposed as alternative therapy. (wikipedia.org)
  • Instead, cryopreservation of testicular tissue prior to cancer treatment can be offered to preserve fertility. (wikipedia.org)
  • In the future, cryopreservation of testicular tissue has the potential to be used to help transgender women have children. (wikipedia.org)
  • For pre-pubertal boys undergoing chemotherapy, or any other treatment which may be significantly gonadotoxic, options to preserve fertility include cryopreservation of testicular tissue (TT). (wikipedia.org)
  • Testicular biopsies for cryopreservation have been performed among many research centres leading to variation in procedure and optimal procedure is yet to be determined. (wikipedia.org)
  • Contamination of the testicular tissue for cryopreservation by malignant cells is a concern. (wikipedia.org)
  • Research question: Which early-diagnosed Klinefelter syndrome patients have been offered cryopreservation of testicular tissue as part of fertility preservation before spermatogonial stem cell (SSC) loss? (researchportal.be)
  • The association of Klinefelter syndrome and mediastinal nonseminomatous germ cell tumors is now well recognized. (health.am)
  • Four of 22 consecutive patients (18%) treated at Indiana University for primary mediastinal germ cell tumors had karyotypic confirmation of Klinefelter syndrome, and an additional patient had clinical features. (health.am)
  • Rarely, cancers other than testicular tumors may produce hormones that can cause gynecomastia. (medicinenet.com)
  • It can also occur in a scattering of cells early in development and, sometimes, testicular germ cell tumors. (sciencealert.com)
  • Testicular germ cell tumors. (cigna.com)
  • Testicular germ cell tumors are divided into two main types, seminoma and nonseminoma. (cigna.com)
  • There are many causes for this condition such as autoimmune disorders, ovarian tumors, Turner syndrome (a genetic abnormality), polycystic ovary syndrome, menopause, adrenal or thyroid disease etc. (practo.com)
  • There are many causes for this condition such as autoimmune disorders, germ cell tumors, Klinefelter syndrome (a genetic abnormality), viral infection such as mumps, trauma etc. (practo.com)
  • causes of testicular pain beyond torsion should be considered. (bvsalud.org)
  • We report a rare case of congenital bilateral testicular agenesis who presented with a suicide attempt. (scirp.org)
  • It is a rare case of congenital testicular agenesis with bipolar disorder which was resistant to therapy. (scirp.org)
  • However, long-term follow-up studies evaluating the effects on their gonadal development and function related to the testicular biopsy procedure are rather limited. (researchportal.be)
  • Open" Biopsy of the Testis and Testicular Sperm Extraction. (booksca.ca)
  • Histologic Procedures and Testicular Biopsy Freezing. (booksca.ca)
  • Testicular inflammation causing swelling and pain, commonly associated with viral illnesses like mumps. (datamax.org)
  • Adolescent male with Klinefelter syndrome who has female-type distribution of pubic hair and testicular dysgenesis. (medscape.com)
  • Physical exam revealed minimal axillary and pubic hair, testicular implants with a microphallus. (scirp.org)
  • Cutting-edge techniques such as testicular sperm extraction (TESE - in which sperm is taken directly from the testicle with a needle), combined with intracytoplasmic sperm injection (ICSI - whereby the sperm cell is injected directly into an egg harvested from the female) have made it possible for some of these men to have their own children. (wdxcyber.com)
  • About half of testicular sperm extraction (TESE) procedures in men with non-obstructive azoospermia (NOA), including men with Klinefelter syndrome (KS), are unsuccessful. (researchportal.be)
  • Contact your provider if your child has any signs or symptoms of Klinefelter syndrome. (medlineplus.gov)
  • Because other problems can cause symptoms similar to those of testicular cancer, the physician may order tests to screen out other problems, or to be sure the cancer has not spread. (urologygroup.com)
  • Immunostaining using anti-vimentin and anti-VASA (DDX4) showed that only Sertoli cells and no germ cells were observed in the testicular tubules. (karger.com)
  • Aksglaede I, Juul A. Testicular function and fertility in men with Klinefelter syndrome: a review. (springer.com)
  • Klinefelter syndrome: an argument for early aggressive hormonal and fertility management. (springer.com)
  • Current research suggests that cryopreserving testicular tissue for prepubertal individuals can have promising results for using the tissue to produce sperm later in life, but is less likely to be effective if the testicular tissue is taken from older individuals. (wikipedia.org)
  • There have been numerous challenges identified in cryopreserving testicular tissue many of which are due to very little tissue being available for research and the lack of long-term studies. (wikipedia.org)
  • We analyzed the chromosome complement of a fibroblast culture and did histological examinations of testicular tissue from a tortoiseshell male cat referred to us. (karger.com)
  • Previous genomics studies on testis tissue from men with KS focused on germ cell loss, while a transcriptomic analysis focused on testicular fibrosis has not yet been performed. (researchportal.be)
  • Polycystic Ovary Syndrome (PCOS), the most common endocrine disorder of women during the reproductive period, is often implicated with NAFLD.Aim: To investigate the potential involvement of PCOS on the aggravation of NAFLD by. (endocrine-abstracts.org)
  • Introduction: Polycystic ovary syndrome (PCOS) affects 5-10% of reproductive aged women. (endocrine-abstracts.org)
  • This data will allow for population estimates of the selected steriod hormones and related binding protein that can be used to assist in disease diagnosis, treatment, and prevention of disease such as, Polycystic Ovary Syndrome (PCOS), androgen deficiency, cancer, and hormone imbalances in children. (cdc.gov)
  • Ten patients underwent unilateral micro-testicular sperm extraction. (elsevierpure.com)
  • Tortoiseshell male cats do, however, occur at a low frequency among tortoiseshell cats because of chromosome aberrations similar to the Klinefelter syndrome in man: the extra X chromosome of a 39,XXY karyotype introduces the possibility of an orange and a non-orange allele which produce the mixture of orange and non-orange coat spotting known as tortoiseshell. (karger.com)
  • Our encounter with the patient was after an endocrine consult to address his testicular agenesis, subsequent psychiatric complication, and the questionable benefit of hormone replacement therapy to improve his depression with multiple suicide attempts. (scirp.org)
  • Athelia or amastia is sometimes associated with Poland syndrome (ie, absent chest wall muscles, absence of ribs 2-5, deformities of the hands or vertebrae). (medscape.com)
  • The diagnosis is made in the absence of palpable testis in the testicular sac and is sometimes discovered in young male children as with our patient or based on regular healthy appointments [1]. (scirp.org)
  • Microdissection sperm extraction (unilateral micro-testicular sperm extraction) was offered to individuals with no sperm in their ejaculates. (elsevierpure.com)
  • OBJECTIVE: To determine the prevalence of sperm suitable for intracytoplasmic sperm injection (ICSI) in fresh ejaculated semen samples provided by men scheduled for a microdissection testicular sperm extraction (mTESE) procedure. (bvsalud.org)
  • In 1959, these men with Klinefelter syndrome were discovered to have an extra X chromosome (genotype XXY) instead of the usual male sex complement (genotype XY). (medscape.com)
  • This swelling can occur after testicular injury or after hernia surgery. (urologygroup.com)
  • Testicular cancer affects teens and younger men, particularly those between ages 15 and 44. (thecancerspecialist.com)
  • Testicular cancer can potentially emanate from stromal or connective tissues - while stromal tissues are generally noncancerous or benign, they can sometimes become malignant. (dbclinic.com.sg)
  • A testicle that is clearly bigger than the other, as well as a hard lump, should be tell-tale signs that you might have testicular cancer. (dbclinic.com.sg)
  • In men, the increased levels of FSH and LH may indicate a condition called primary testicular failure, where the gonads fail to work properly themselves. (practo.com)
  • Incidentally, one-third of the patients were found to have testicular microlithiasis and 17% of subjects with renal ultrasound imaging had bilateral renal medullary nephrocalcinosis. (elsevierpure.com)