Published in Eur J Endocrinol on December 09, 2011
Treatment and health outcomes in adults with congenital adrenal hyperplasia. Nat Rev Endocrinol (2013) 0.89
Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am (2015) 0.76
Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems. Balkan J Med Genet (2016) 0.75
A Case of Bilateral Testicular Tumors Subsequently Diagnosed as Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. Int J Fertil Steril (2015) 0.75
Congenital Adrenal Hyperplasia. F1000Res (2015) 0.75
Non-Classical Congenital Adrenal Hyperplasia in Childhood. J Clin Res Pediatr Endocrinol (2016) 0.75
11-Oxygenated Androgens are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency. J Clin Endocrinol Metab (2017) 0.75
Congenital Adrenal Hyperplasia. J Pediatr Adolesc Gynecol (2017) 0.75
A critical evaluation of simple methods for the estimation of free testosterone in serum. J Clin Endocrinol Metab (1999) 10.64
Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod (2008) 2.19
Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab (2010) 2.10
Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 2.01
The effect of obesity on sperm disorders and male infertility. Nat Rev Urol (2010) 1.99
Male obesity and alteration in sperm parameters. Fertil Steril (2008) 1.84
Clinical pharmacology of the anti-inflammatory steroids. Clin Pharmacol Ther (1961) 1.76
Prevalence of testicular adrenal rest tumours in male children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol (2007) 1.70
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2001) 1.52
Androgen and psychosexual development: core gender identity, sexual orientation and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH). J Sex Res (2004) 1.44
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab (2009) 1.39
Testicular adrenal rest tumours in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab (2009) 1.39
The metabolic syndrome and male infertility. J Androl (2008) 1.30
High prevalence of reduced fecundity in men with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2009) 1.17
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue. J Clin Endocrinol Metab (2007) 1.16
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 1.14
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. J Clin Endocrinol Metab (2007) 1.08
Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab (2007) 1.02
High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency. Clin Endocrinol (Oxf) (2011) 1.02
Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N Engl J Med (1978) 1.00
Unfavourable trends in cardiovascular and metabolic risk in paediatric and adult patients with congenital adrenal hyperplasia? Clin Endocrinol (Oxf) (2009) 0.97
Testicular adrenal rest tissue in congenital adrenal hyperplasia: findings at Gray-scale and color Doppler US. Radiology (1996) 0.97
Testicular adrenal rest tissue in congenital adrenal hyperplasia: comparison of MR imaging and sonographic findings. AJR Am J Roentgenol (1999) 0.93
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol (2010) 0.92
Measurement of testicular volume: comparison of 3 different methods. J Urol (1996) 0.91
TESTICULAR HILAR NODULES IN ADRENOGENITAL SYNDROME. THE NATURE OF THE NODULES. Am J Dis Child (1963) 0.90
Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. Endocrinol Metab Clin North Am (2001) 0.89
Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency. J Endocrinol Invest (2000) 0.88
Testicular adrenal rest tumours in boys, adolescents and adult men with congenital adrenal hyperplasia may be associated with the CYP21A2 mutation. Int J Androl (2009) 0.81
The prevalence of testicular adrenal rest tumors and associated factors in postpubertal patients with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Endocr J (2011) 0.81
Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr J (2009) 0.81
AGC1 deficiency associated with global cerebral hypomyelination. N Engl J Med (2009) 2.43
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications. Hum Mol Genet (2002) 1.69
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. J Clin Endocrinol Metab (2004) 1.50
Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency. J Clin Endocrinol Metab (2009) 1.39
Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2007) 1.36
Transvaginal ultrasound-guided aspiration for treatment of tubo-ovarian abscess: a study of 302 cases. Am J Obstet Gynecol (2005) 1.20
Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone. J Clin Endocrinol Metab (2006) 1.19
Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab (2002) 1.17
Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab (2006) 1.14
Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. Am J Hum Genet (2011) 1.14
Molecular model of human CYP21 based on mammalian CYP2C5: structural features correlate with clinical severity of mutations causing congenital adrenal hyperplasia. Mol Endocrinol (2006) 1.09
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet (2009) 1.09
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab (2007) 1.09
Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. J Clin Endocrinol Metab (2007) 1.08
Incidence of hyperthyroidism in Sweden. Eur J Endocrinol (2011) 1.07
DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med (2004) 1.07
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism. BMC Genomics (2014) 0.99
Adrenal incidentaloma - follow-up results from a Swedish prospective study. Eur J Endocrinol (2006) 0.98
Fracture incidence in GH-deficient patients on complete hormone replacement including GH. J Bone Miner Res (2007) 0.97
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia. Eur J Endocrinol (2013) 0.96
Postoperative differentiation between unilateral adrenal adenoma and bilateral adrenal hyperplasia in primary aldosteronism by mRNA expression of the gene CYP11B2. Eur J Endocrinol (2004) 0.96
Prevalence and histologic diagnosis of adnexal cysts in postmenopausal women: an autopsy study. Am J Obstet Gynecol (2005) 0.93
Sexual function and surgical outcome in women with congenital adrenal hyperplasia due to CYP21A2 deficiency: clinical perspective and the patients' perception. J Clin Endocrinol Metab (2010) 0.92
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Eur J Endocrinol (2010) 0.92
National incidence and prevalence of TSH-secreting pituitary adenomas in Sweden. J Clin Endocrinol Metab (2013) 0.89
Prenatal treatment of congenital adrenal hyperplasia. Eur J Endocrinol (2004) 0.88
Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint. J Clin Endocrinol Metab (2012) 0.88
Novel candidate genes for 46,XY gonadal dysgenesis identified by a customized 1 M array-CGH platform. Eur J Med Genet (2013) 0.88
Thyrotoxic periodic paralysis: clinical and molecular aspects. Endocrine (2012) 0.88
Gamma knife radiosurgery for craniopharyngiomas: long-term results in the first Swedish patients. J Neurosurg (2002) 0.85
Clinical outcomes in the management of congenital adrenal hyperplasia. Endocrine (2012) 0.85
Peptides associated with hyperphagia in adults with Prader-Willi syndrome before and during GH treatment. Growth Horm IGF Res (2003) 0.84
Growth hormone treatment improves body composition in adults with Prader-Willi syndrome. Clin Endocrinol (Oxf) (2003) 0.84
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. J Mol Med (Berl) (2006) 0.84
Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias. Reprod Biol Endocrinol (2007) 0.84
Voice characteristics in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) (2008) 0.83
Gestational age correlates to genotype in girls with CYP21 deficiency. J Clin Endocrinol Metab (2006) 0.83
Normal sexual development and fertility in testatin knockout mice. Mol Cell Biol (2005) 0.83
Associations between amino acids and bone mineral density in men with idiopathic osteoporosis. Bone (2010) 0.82
A case of 3beta-hydroxysteroid dehydrogenase type II (HSD3B2) deficiency picked up by neonatal screening for 21-hydroxylase deficiency: difficulties and delay in etiologic diagnosis. Horm Res (2007) 0.82
Diurnal profiles of testosterone and pituitary hormones suggest different mechanisms for menstrual disturbances in endurance athletes. J Clin Endocrinol Metab (2004) 0.82
A new computer-aided diagnostic tool for non-invasive characterisation of malignant ovarian masses: results of a multicentre validation study. Eur Radiol (2010) 0.82
Transsphenoidal surgery in Cushing disease: 10 years of experience in 34 consecutive cases. J Neurosurg (2004) 0.82
Novel mutations in CYP21 detected in individuals with hyperandrogenism. J Clin Endocrinol Metab (2002) 0.82
Metabolic profile and body composition in adults with Prader-Willi syndrome and severe obesity. J Clin Endocrinol Metab (2002) 0.82
Immunohistochemistry improves histopathologic diagnosis in primary aldosteronism. J Clin Pathol (2013) 0.82
Abnormal uterine bleeding refractory to medical therapy assessed by saline infusion sonohysterography. Acta Obstet Gynecol Scand (2010) 0.82
Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr J (2009) 0.81
Glucocorticoid replacement therapy is independently associated with reduced bone mineral density in women with hypopituitarism. Clin Endocrinol (Oxf) (2012) 0.80
Nonfatal stroke, cardiac disease, and diabetes mellitus in hypopituitary patients on hormone replacement including growth hormone. J Clin Endocrinol Metab (2007) 0.80
The effects of GH replacement therapy on cardiac morphology and function, exercise capacity and serum lipids in elderly patients with GH deficiency. Clin Endocrinol (Oxf) (2004) 0.79
Eating behavior and gastric emptying in adults with Prader-Willi syndrome. Ann Nutr Metab (2007) 0.79
Male sex determination and prenatal differentiation of the testis. Endocr Dev (2003) 0.79
Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH. Clin Endocrinol (Oxf) (2012) 0.78
Quality of life, social situation, and sexual satisfaction, in adult males with congenital adrenal hyperplasia. Endocrine (2014) 0.77
Isolation of the human testatin gene and analysis in patients with abnormal gonadal development. Mol Hum Reprod (2002) 0.77
Pregnancies following ultrasound-guided drainage of tubo-ovarian abscess. Fertil Steril (2012) 0.77
Voice problems due to virilization in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clin Endocrinol (Oxf) (2013) 0.77
Somatropin therapy in adults with Prader-Willi syndrome. Treat Endocrinol (2004) 0.77
The growth hormone-insulin-like growth factor axis in adult patients with Prader Willi syndrome. Growth Horm IGF Res (2003) 0.77
An ultrasound-based approach to the assessment of infertility, including the evaluation of tubal patency. Best Pract Res Clin Obstet Gynaecol (2004) 0.76
CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development. Fertil Steril (2012) 0.76
Primary aldosteronism: functional histopathology and long-term follow-up after unilateral adrenalectomy. Clin Endocrinol (Oxf) (2014) 0.76
Growth hormone induced lipolysis during short- and long-term administration in adult Prader-Willi patients. Growth Horm IGF Res (2005) 0.76
Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. Evol Dev (2010) 0.76
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. Clin Endocrinol (Oxf) (2014) 0.76
Complete androgen insensitivity without Wolffian duct development: the AR-A form of the androgen receptor is not sufficient for male genital development. Clin Endocrinol (Oxf) (2007) 0.75
Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis. Int J Endocrinol (2012) 0.75
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia. Horm Res Paediatr (2012) 0.75
Psychosocial health and levels of employment in 851 hypopituitary Swedish patients on long-term GH therapy. Psychoneuroendocrinology (2012) 0.75
An androgen receptor gene mutation (E653K) in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen insensitivity. J Clin Endocrinol Metab (2002) 0.75
[Guidelines for substitution therapy in pituitary insufficiency in adults]. Lakartidningen (2003) 0.75
[Boy or girl--don't ever guess! Diagnosis and treatment of sex differentiation disorders]. Lakartidningen (2008) 0.75
Screening for primary aldosteronism in a primary care unit. J Renin Angiotensin Aldosterone Syst (2012) 0.75
Natural history of endometrial cancer: report of one woman who did not accept treatment. Acta Obstet Gynecol Scand (2004) 0.75