Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism.

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Term Occurence Count Dictionary
congenital adrenal hyperplasia 1 endocrinologydiseases
hypogonadism 21 endocrinologydiseases
metabolic syndrome 2 endocrinologydiseases
obesity 2 endocrinologydiseases
osteoporosis 2 endocrinologydiseases
testosterone 22 endocrinologydiseasesdrugs

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Select Drug Character Offset Drug Term Instance
testosterone 3257 aim of this review is to discuss KS clinical features according with the genetic and hormonal (low testosterone ) factors involved in their pathogenesis.Clinical phenotype and hypogonadismClinical phenotypeThe major
testosterone 3705 puberty, gynoid aspect of hips (broad hips), sparse body hair, signs of androgen deficiency and low serum testosterone coupled with elevated gonadotropins, and finally azoospermia, oligospermia with hyalinization and fibrosis
testosterone 6914 severity of hypogonadism) as well as on the time duration of the disease, the delay in the diagnosis of testosterone deficiency, and advancing age coupled with increasing other comorbiditiesThe high frequency of mild
testosterone 8264 deficiency from that due to chromosomal abnormalities is crucial in order to improve the outcome of testosterone replacement therapy, to establish how the disease should be monitored during the follow-up, and to inform
testosterone 9521 hairFemale pubic escutcheonReduced muscle massBilateral gynecomastiaEunuchoid skeletonImpaired estradiol/ testosterone ratioLonger legs?[T-deficiency during fetal life]??Eunuchoid skeletal proportionsGynoid hipsTall statureGenital
testosterone 23310 [[71]].Hypogonadism and related phenotypeHypogonadism remains silent until pubertal onset. Data on serum testosterone and estradiol in healthy prepubertal children are scanty, and there are no studies investigating sex
testosterone 23522 sex steroids secretion in KS during infancy [[24]]. Usually, boys with KS enter puberty regularly and testosterone rises in a physiological way allowing epiphyseal closure and satisfactory development of secondary sexual
testosterone 24011 symptoms of under-virilization and/or delayed puberty [[1], [5], [7], [10], [11]]. Low to normal serum testosterone at puberty contributes in part to the development of tall stature and worsens the ratio between upper
testosterone 25066 (hypergonadotropic hypogonadism) and the latter are usually higher than normal even in patients with serum testosterone still in the normal range [[1], [5], [10], [77], [78]]. Due to heterogeneous values of serum testosterone
testosterone 25172 testosterone still in the normal range [[1], [5], [10], [77], [78]]. Due to heterogeneous values of serum testosterone in KS, the adequate threshold below which serum T should be considered insufficient in these patients
testosterone 25690 be altered in KS. Serum estradiol might be almost normal or sometimes elevated, but the estradiol to testosterone ratio seems to be constantly higher than in normal men [[5], [81]] (Table 1). This may account for
testosterone 25873 (Table 1). This may account for the development of gynecomastia, the latter being associated with low testosterone even in non Klinefelter patients [[82]]. In adult men with KS, serum inhibin B is undetectable due to
testosterone 26484 diseases usually appear during adulthood and increase with advancing age [[16], [22], [89]].When serum testosterone is below normal, obesity and gynoid fat distribution are common in men with KS [[16]], in addition reduced
testosterone 26889 to the genetic abnormality (Table 1). For this reason, it is important to unravel symptoms due to testosterone deficiency from the others.Several other clinical features of KS have been related to hypogonadism,
testosterone 27180 lower than normal is prevalent in patients with KS, but it seems not directly related to low serum testosterone [[90]]. Accordingly, several cognitive and psychological aspects are associated with KS [[5]]. Intellectual
testosterone 29069 first causing androgen deficiency, the latter leading to androgen excess was helpful in disclosing testosterone -dependent signs and symptoms in KS [[95]]. Under-virilization and abnormalities of sexual behavior (in
testosterone 29539 two syndromes [[95]]. Thus, the normalization of adrenal androgens revealed clinical features due to testosterone deficiency and KS [[95]].Clinical implicationsPatients with a diagnosis of KS needs to be followed throughout
testosterone 29695 implicationsPatients with a diagnosis of KS needs to be followed throughout life and have to be treated with testosterone in case of hypogonadism. Particular attention should be paid to adequate titration of testosterone dosage
testosterone 29794 testosterone in case of hypogonadism. Particular attention should be paid to adequate titration of testosterone dosage in these patients since they mostly have a mild testosterone deficiency, especially those with
testosterone 29862 be paid to adequate titration of testosterone dosage in these patients since they mostly have a mild testosterone deficiency, especially those with mild phenotype. All testosterone formulations are effective in patients
testosterone 29929 patients since they mostly have a mild testosterone deficiency, especially those with mild phenotype. All testosterone formulations are effective in patients with KS, the choice depending on the pretreatment levels of serum
testosterone 32955 any difficulties in their language, scholastic and neuropsychological difficulties; the start of the testosterone replacement therapy as soon as the patients need it allows them to avoid the long-term consequences
Select Disease Character Offset Disease Term Instance
congenital adrenal hyperplasia 28895 erroneous long-held view [[5], [7], [10], [11]].A case of a 51-year-old adult man affected by both KS and congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency, the first causing androgen deficiency, the latter leading to
hypogonadism 108 Journal of Endocrinological InvestigationKlinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism M. BonomiV. RochiraD. PasqualiG. BalerciaE. A. JanniniA. FerlinOn behalf of the Klinefelter ItaliaN Group
hypogonadism 3140 [[5]].KS is associated with several clinical conditions coming from both the genetic abnormalities and hypogonadism . The aim of this review is to discuss KS clinical features according with the genetic and hormonal (low
hypogonadism 3333 genetic and hormonal (low testosterone) factors involved in their pathogenesis.Clinical phenotype and hypogonadism Clinical phenotypeThe major signs and symptoms of Klinefelter Syndrome (KS) have been well characterized
hypogonadism 3913 and fibrosis of the seminiferous tubules [[5], [6]] (Fig. 1). Usually, the above-mentioned signs of hypogonadism are also coupled with psychosocial problems, although an alternative phenotype has also been described,
hypogonadism 4233 clinical phenotypeClinical features depend on both the supernumerary X chromosome and the effects of hypogonadism [[7]]. However, what we know about signs and symptoms of KS renders about the tip of the iceberg (Fig. 1)
hypogonadism 6822 its components (number of supernumerary X chromosome, genetic impact of supernumerary X, severity of hypogonadism ) as well as on the time duration of the disease, the delay in the diagnosis of testosterone deficiency,
hypogonadism 8613 and speech disabilities [[19], [20]] have been attributed to the genetic abnormality rather than to hypogonadism [[5], [7], [10]] (Table 1). Even though rare in KS [[7], [21]], genital anomalies (micropenis, undescended
hypogonadism 10825 Accordingly, after the age of 25, about 80 % of men with KS complain of symptoms related to overt hypogonadism (decreased libido, erectile dysfunction) [[5], [24]].Genetics and clinical phenotypeThe genetic phenotypeThe
hypogonadism 21680 early childhood despite normal circulating levels of IGF-1 and IGFBP-3. This suggests that the sole hypogonadism cannot explain completely this phenotype and, indeed, the excessive expression of growth-related genes
hypogonadism 23790 morphology and pubic hair distribution) [[24], [72]–[75]]. At puberty, only few patients develop overt hypogonadism , with evident signs (horizontal pubic line, scant body, axillary, and facial hair, poor muscle mass)
hypogonadism 24660 appearance and/or worsening of hypogonadal signs and symptoms (Fig. 2). However, the age of onset of hypogonadism is extensively variable [[5]]. In literature, lower than normal serum T concentrations (<12 nmol/L)
hypogonadism 24978 the normal range [[5]]. Hypogonadism is always coupled with elevated gonadotropins (hypergonadotropic hypogonadism ) and the latter are usually higher than normal even in patients with serum testosterone still in the
hypogonadism 25350 considered insufficient in these patients is lacking. Controlled studies showing a different age-related hypogonadism in patients with KS are not available, so the use of inter-society guideline criteria for male hypogonadism
hypogonadism 25458 hypogonadism in patients with KS are not available, so the use of inter-society guideline criteria for male hypogonadism seems to be, at present, the most appropriate one also in this context [[79], [80]].Other reproductive
hypogonadism 26238 evidence of lower INSL3 levels in comparison with normal subjects [[88]].Likewise signs and symptoms of hypogonadism (e.g. sexual dysfunction), comorbidities associated with KS such as diabetes, metabolic syndrome, osteoporosis
hypogonadism 26988 testosterone deficiency from the others.Several other clinical features of KS have been related to hypogonadism , but with a variable degree of uncertainty. The finding of bone mineral density lower than normal is
hypogonadism 27875 [93]]. As language and learning disabilities become manifest during infancy, their relationship with hypogonadism may be ruled out. In addition, this kind of speech problems is common also in other sex chromosome trisomy
hypogonadism 28015 addition, this kind of speech problems is common also in other sex chromosome trisomy not associated with hypogonadism [[93]], thus suggesting that they depend from genetic factors [[92]]. However, it is not possible to
hypogonadism 28526 need to be replicated on a large scale in order to be confirmed [[93], [94]], their relationship with hypogonadism remaining unknown [[92]]. Finally, the old concept of a strong association among KS and criminal behavior,
hypogonadism 29719 diagnosis of KS needs to be followed throughout life and have to be treated with testosterone in case of hypogonadism . Particular attention should be paid to adequate titration of testosterone dosage in these patients
hypogonadism 33075 replacement therapy as soon as the patients need it allows them to avoid the long-term consequences of the hypogonadism ; semen or testicular tissue cryopreservation could also be performed as soon as possible, before the
metabolic syndrome 10687 (Table 1), similarly to what happens to other clinical conditions associated with KS such as diabetes and metabolic syndrome [[16], [22], [23]]. Accordingly, after the age of 25, about 80 % of men with KS complain of symptoms
metabolic syndrome 26329 symptoms of hypogonadism (e.g. sexual dysfunction), comorbidities associated with KS such as diabetes, metabolic syndrome , osteoporosis and cardiovascular diseases usually appear during adulthood and increase with advancing
obesity 9731 statureGenital abnormalities at birth [rare]Elevated gonadotropinsBMI in the range of overweight or obesity Metabolic abnormalitiesReduced bone mineral densitySymptomsSpeech and language disabilitiesAzoospermiaImpaired
obesity 26514 adulthood and increase with advancing age [[16], [22], [89]].When serum testosterone is below normal, obesity and gynoid fat distribution are common in men with KS [[16]], in addition reduced muscle strength may
osteoporosis 20043 inactivation of AR with shorter or longer CAG repeats, nor found associations with some clinical features ( osteoporosis , artery diameter) and weighted CAG repeat length.Activity of the genes located in the pseudoautosomal
osteoporosis 26349 hypogonadism (e.g. sexual dysfunction), comorbidities associated with KS such as diabetes, metabolic syndrome, osteoporosis and cardiovascular diseases usually appear during adulthood and increase with advancing age [[16], [22],

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