Published in Clin Endocrinol (Oxf) on January 01, 2006
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab (2010) 3.80
Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J Clin Endocrinol Metab (2010) 2.10
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort. J Clin Endocrinol Metab (2013) 1.58
Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis. Indian J Endocrinol Metab (2013) 0.84
Motor development in individuals with congenital adrenal hyperplasia: strength, targeting, and fine motor skill. Psychoneuroendocrinology (2008) 0.82
The medical home concept and congenital adrenal hyperplasia: a comfortable habitat! Int J Pediatr Endocrinol (2010) 0.81
Health-related quality of life, mental health and psychotherapeutic considerations for women diagnosed with a disorder of sexual development: congenital adrenal hyperplasia. Int J Pediatr Endocrinol (2010) 0.81
Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency. Indian J Endocrinol Metab (2013) 0.77
Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Indian J Endocrinol Metab (2012) 0.75
Large testicular adrenal rest tumours in a patient with congenital adrenal hyperplasia. Endocrinol Diabetes Metab Case Rep (2015) 0.75
Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care. Korean J Pediatr (2017) 0.75
Primary hyperoxaluria. N Engl J Med (2013) 3.04
The effect of clitoral surgery on sexual outcome in individuals who have intersex conditions with ambiguous genitalia: a cross-sectional study. Lancet (2003) 2.96
Requests for cosmetic genitoplasty: how should healthcare providers respond? BMJ (2007) 2.93
Premature ovarian failure. Hum Reprod Update (2005) 2.31
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. J Clin Endocrinol Metab (2007) 1.71
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3. Nephrol Dial Transplant (2012) 1.71
Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele. J Biol Chem (2012) 1.69
Female genital appearance: "normality" unfolds. BJOG (2005) 1.66
Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat (2009) 1.55
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant (2012) 1.48
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Hum Mutat (2003) 1.48
Sexual function and health-related quality of life in women with classic bladder exstrophy. BJU Int (2014) 1.46
Ovarian torsion: to pex or not to pex? Case report and review of the literature. J Pediatr Adolesc Gynecol (2003) 1.44
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
Female genital cosmetic surgery: a new dilemma for GPs. Br J Gen Pract (2011) 1.42
A systematic review of commonly used medical treatments for hirsutism in women. Clin Endocrinol (Oxf) (2007) 1.38
Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence. Clin Endocrinol (Oxf) (2012) 1.37
The pathophysiology of polycystic ovary syndrome. Clin Endocrinol (Oxf) (2004) 1.37
Genital prolapse in adult women with classical bladder exstrophy. Int Urogynecol J (2012) 1.26
Potential mechanisms of marked hyperoxaluria not due to primary hyperoxaluria I or II. Kidney Int (2002) 1.25
Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome. Hum Reprod (2007) 1.24
Androgens and autistic traits: A study of individuals with congenital adrenal hyperplasia. Horm Behav (2006) 1.23
Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1. Clin Chem (2007) 1.19
A comparison of echocardiography and magnetic resonance imaging in cardiovascular screening of adults with Turner syndrome. J Clin Endocrinol Metab (2004) 1.18
Female genital mutilation: the role of health professionals in prevention, assessment, and management. BMJ (2012) 1.16
Cortical anatomy in human X monosomy. Neuroimage (2009) 1.12
Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction. J Clin Endocrinol Metab (2005) 1.12
Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate. Clin Endocrinol (Oxf) (2009) 1.10
Holistic management of DSD. Best Pract Res Clin Endocrinol Metab (2010) 1.09
The XY female. Best Pract Res Clin Obstet Gynaecol (2009) 1.08
Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1. Biochim Biophys Acta (2013) 1.07
Influence of X chromosome and hormones on human brain development: a magnetic resonance imaging and proton magnetic resonance spectroscopy study of Turner syndrome. Biol Psychiatry (2005) 1.07
Premature ovarian failure. Horm Res (2007) 1.06
Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril (2003) 1.04
Swyer syndrome. Curr Opin Endocrinol Diabetes Obes (2014) 1.03
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis. Mol Genet Metab (2004) 1.02
Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone. J Clin Endocrinol Metab (2004) 1.01
Mutations in the hepatocyte nuclear factor-1β (HNF1B) gene are common with combined uterine and renal malformations but are not found with isolated uterine malformations. Am J Obstet Gynecol (2010) 0.99
Personality and congenital adrenal hyperplasia: possible effects of prenatal androgen exposure. Horm Behav (2008) 0.99
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans. J Clin Endocrinol Metab (2006) 0.99
Reconstruction of human hepatocyte glyoxylate metabolic pathways in stably transformed Chinese-hamster ovary cells. Biochem J (2006) 0.99
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. J Clin Endocrinol Metab (2010) 0.99
Management of ovarian disease in pregnancy. Best Pract Res Clin Endocrinol Metab (2011) 0.98
Global Disorders of Sex Development Update since 2006: Perceptions, Approach and Care. Horm Res Paediatr (2016) 0.97
Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia. J Urol (2007) 0.97
Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome. Clin Endocrinol (Oxf) (2006) 0.96
Altered cortisol metabolism in polycystic ovary syndrome: insulin enhances 5alpha-reduction but not the elevated adrenal steroid production rates. J Clin Endocrinol Metab (2003) 0.96
Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits. J Clin Endocrinol Metab (2005) 0.96
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel. Am J Nephrol (2005) 0.95
Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase. J Mol Biol (2006) 0.94
Adult genital surgery for intersex: a solution to what problem? J Health Psychol (2005) 0.94
Molecular aetiology of primary hyperoxaluria and its implications for clinical management. Expert Rev Mol Med (2004) 0.94
Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure. Hum Reprod (2010) 0.94
A long-acting human growth hormone with delayed clearance (VRS-317): results of a double-blind, placebo-controlled, single ascending dose study in growth hormone-deficient adults. J Clin Endocrinol Metab (2013) 0.94
Primary hyperoxaluria. N Engl J Med (2013) 0.92
'Hirsutism': a psychological analysis. J Health Psychol (2003) 0.92
Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience. Eur J Endocrinol (2006) 0.92
Perrault syndrome: further evidence for genetic heterogeneity. J Neurol (2011) 0.91
Revealing the diagnosis of androgen insensitivity syndrome in adulthood. BMJ (2005) 0.91
Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content. J Clin Endocrinol Metab (2005) 0.90
Primary hyperoxaluria type 2 in children. Pediatr Nephrol (2002) 0.90
An analysis of the content and clinical implications of online advertisements for female genital cosmetic surgery. BMJ Open (2012) 0.90
A dose-response study of hormone replacement in young hypogonadal women: effects on intima media thickness and metabolism. Clin Endocrinol (Oxf) (2007) 0.90
Pubertal development and sexuality in female adolescents born preterm: a review of the literature. Int J Adolesc Med Health (2011) 0.89
The pitfalls of vaginal construction. BJU Int (2005) 0.89
Uterus size and ovarian morphology in women with isolated growth hormone deficiency, hypogonadotrophic hypogonadism and hypopituitarism. Clin Endocrinol (Oxf) (2004) 0.88
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. J Clin Endocrinol Metab (2006) 0.88
Purification and characterization of recombinant human liver glycolate oxidase. Arch Biochem Biophys (2007) 0.88
Vitamin D status in patients with osteopenia or osteoporosis--an audit of an endocrine clinic. Int J Vitam Nutr Res (2006) 0.88
Congenital adrenal hyperplasia and lower urinary tract symptoms. BJU Int (2005) 0.88
Renal and urological abnormalities occurring with Mullerian anomalies. J Pediatr Urol (2011) 0.87
Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology (2013) 0.87
[18F]fluoro-2-deoxy-D-glucose ([18F]FDG) positron emission tomography imaging of thymic carcinoid tumor presenting with recurrent Cushing's syndrome. Eur J Endocrinol (2005) 0.87
Tissue differences in the expression of mutations and polymorphisms in the GRHPR gene and implications for diagnosis of primary hyperoxaluria type 2. Clin Chem (2005) 0.87
Emotional and sexual wellness and quality of life in women with Rokitansky syndrome. Am J Obstet Gynecol (2011) 0.87
Androgenic influences on neural asymmetry: Handedness and language lateralization in individuals with congenital adrenal hyperplasia. Psychoneuroendocrinology (2004) 0.87
Why are women referred for female genital cosmetic surgery? Med J Aust (2011) 0.86
Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries. J Clin Endocrinol Metab (2008) 0.86
Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative. Int J Pediatr Endocrinol (2011) 0.86
Vaginoplasty. Curr Opin Urol (2007) 0.86
Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE). Eur J Endocrinol (2013) 0.84
Chemical vaginitis: implications and management. J Low Genit Tract Dis (2013) 0.84