BRD2, bromodomain containing 2, 6046

N. diseases: 303; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE <b>Abbreviations:</b> AR: androgen receptor; FSH: follicle stimulating hormone; Gn: gonadotropins; GnRH: gonadotropin-releasing hormone; hCG: human chronic gonadotropin; HH: hypogonadotropic hypogonadism; LH: luteinizing hormone; PCR: polymerase chain reaction. 31030566 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE The established clinical indication for FSH use in male infertility is the treatment of patients with hypogonadotropic hypogonadism for stimulation of spermatogenesis that allows the induction of a clinical pregnancy in the female partner and finally the birth of a healthy child. 31178827 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE However, FSH was inversely associated with sRANKL in both infertile men and KS men (p = .023 and p = .012). 30914274 2019
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE If puberty has not started by age 14 years, monitoring of serum concentrations of LH, FSH, testosterone, and inhibin B to evaluate for the possibility of HH is necessary. 29361664 2018
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE The association of recombinant FSH plus recombinant LH in 2:1 ratio may be used not only to induce ovulation in anovulatory women with hypogonadotropic hypogonadism but also to achieve multiple follicular developments in human IVF. 30021630 2018
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE Recombinant human FSH administration improves sperm DNA integrity in hypogonadotropic hypogonadism and idiopathic oligoasthenoteratozoospermia men with DNA fragmentation index value >15 % . 23435529 2013
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE The patient showed the classic phenotype of Klinefelter syndrome but with low levels of FSH and LH. 21703612 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE The etiology of HHG involves a combined and variable deficiency of hypothalamic GnRH secretion and/or pituitary responsiveness to GnRH resulting in low LH, FSH and testosterone. 21672607 2011
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE Endocrine biochemistry at presentation showed hypogonadotropic hypogonadism (LH 2.4 U/L, FSH <1.0 IU/L, testosterone 2.8 nmol/L) with increased serum estrone (E(1), 821 pmol/L) and estradiol (E(2), 797 pmol/L) and subclinical ACTH-independent hypercortisolism (serum cortisol post 1mg overnight dexamethasone suppression test, 291 nmol/L). 20467160 2010
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE These findings and decreased plasma LH and FSH levels at age 19 years were compatible with hypogonadotropic hypogonadism. 18449926 2008
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Serum FSH levels were elevated (21.7 IU/l) compared to normal age-matched healthy male controls and patients with non-mosaic Klinefelter syndrome, and inhibin B levels were low-normal, in contrast to the usually undetectable inhibin B levels in adult Klinefelter patients. 17554105 2007
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Despite normal T concentrations, the KS boys displayed from the age of 13 y elevated serum FSH and LH levels, and exaggerated gonadotropin responses to gonadotropin-releasing hormone. 16641204 2006
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE Basal luteinizing hormone and FSH, testosterone, or estradiol levels were measured in 37 healthy subjects (21 women) and in 27 hypogonadotropic hypogonadism patients (13 women) by immunofluorometric methods (hLH-Spec and hFSH-Spec, AutoDELFIA, Wallac Oy, Turku, Finland). 16358135 2005
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE The postnatal surge in FSH, LH, and testosterone in the male infant as a consequence of the continued function of the fetal GnRH pulse generator provides a 6-month window of opportunity to establish the diagnosis of hypogonadotropic hypogonadism and alert the clinician to the possibility of its association with multiple pituitary hormone deficiencies. 15728198 2005
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 GeneticVariation disease BEFREE Endocrine studies showed normal adrenal function (cortisol response to ACTH stimulation, 13.4-->25.3 microg/dl) and primary hypogonadism (testosterone response to hCG stimulation, 0.57-->0.76 ng/ml; gonadotropin responses to GnRH stimulation: LH, 10-->59 mIU/ml; FSH, 36-->69 mIU/ml), and urinary steroid hormone profile analysis indicated grossly normal steroidogenic enzyme activities. 15579739 2004
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 Biomarker disease BEFREE When non-KS oligo-azoospermic patients were classified according to histology [Sertoli cell-only (SCO), n = 18 or non-Sertoli cell only (non-SCO), n= 18] and compared to KS patients, the hormonal pattern did not differ between SCO and non-SCO subjects, but levels in KS patients were significantly different for FSH, inhibin-B and the FSH/inhibin-B ratio. 12864799 2003
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Serum LH, FSH and testosterone levels were low, indicating hypogonadotropic hypogonadism. 12402986 2002
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 GeneticVariation disease BEFREE The patient had a growth spurt, bone maturation, progression of genital and pubic hair stages, and normalization of plasma T level (15.8 nmol/L) after a 12-month treatment with twice weekly injections of hCG and human menopausal gonadotropin (75 IU International Reference Preparation 2) preparations, suggesting that, in presence of FSH, a Sertoli cell-secreted factor stimulated Leydig cell production of T. In conclusion, we report a novel mutation in the DAX-1 gene in patients with AHC and HH. 10522996 1999
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Plasma LH and FSH levels were abnormally high and testosterone levels were reduced in all the patients with Klinefelter's syndrome. 10202890 1999
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Primary hypogonadism was documented by finding low serum testosterone and raised serum LH and FSH levels. 568665 1978
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE These studies show that elevated levels of LH and FSH in primary hypogonadism syndrome may not become apparent until after the onset of CNS puberty. 342383 1978
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome
0.100 AlteredExpression disease BEFREE Chromatin-positive Klinefelter's syndrome with undetectable peripheral FSH levels. 1166860 1975