LE WE PMID CA
21 hydroxylase deficiency2221 Hydroxylase Mangel

11 hydoxylase

17 20 Desmolase

17 alpha hydroxylase 17 20 lyase

17 beta hydroxysteroid dehydrogenase

20 22 Desmolase

21 hydroxylase deficiency

3 beta hydroxysteroid dehydrogenase2

5 alpha Reductase

Adrenal gland (Hyperplasia congenital)

Androgen insensitivity syndrome

Congenital adrenal hyperplasia

CYP19A1 Aromatase

CYP21A2 P450c21 21Hydroxylase

DAX1 NR0B1

GS alpha

HSD17B3

KAL

Kallmann s syndrome

Leptin

LH

McCune Albright syndrome

NR5A1 SF1

PC1

Pituitary gland (Insufficiency Panhypopituitarism)

Prenatal therapy

PROP1

Puberty (Delayed)

Puberty (Precocious)

Receptor (Androgen)

Receptor (Estrogen)

Receptor (FSH)

Receptor (Glucocorticoid)

Receptor (GnRH)

Receptor (LH)

StAR

2006  
1
Extensive clinical experience: nonclassical 21-hydroxylase deficiency.
[16912124] J Clin Endocrinol Metab 91(11): 4205-14 (2006)
2002  
2
Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
[12213842] J Clin Endocrinol Metab 87(9): 4048-53 (2002)
2002  
3
Adrenomedullary function may predict phenotype and genotype in classic 21-hydroxylase deficiency.
[12107195] J Clin Endocrinol Metab 87(7): 3029-30 (2002)
1999  
4
Neonatal screening for 21-hydroxylase deficient congenital adrenal hyperplasia--the role of CYP21 analysis.
[10323368] J Clin Endocrinol Metab 84(5): 1503-4 (1999)
2010  
5
Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.
[20823466] J Clin Endocrinol Metab 95(9): 4133-60 (2010)
2002  
6
Clinical review 148: Monogenic disorders of puberty.
[12050203] J Clin Endocrinol Metab 87(6): 2481-94 (2002)
2004  
7
Classic congenital adrenal hyperplasia and puberty.
[15554890] Eur J Endocrinol 151 Suppl 3(-): U77-82 (2004)
2004  
8
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
[15514016] Hum Reprod Update 10(6): 469-85 (2004)
2010  
9
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.
[20205117] Endokrynol Pol 61(1): 142-55 (2010)
2010  
10
Nonclassic congenital adrenal hyperplasia.
[20671993] Int J Pediatr Endocrinol 2010(-): 625105 (2010)
2007  
11
Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
[17047340] Horm Res 67(2): 53-60 (2007)
2007  
12
Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
[17275379] Mol Genet Metab 90(4): 414-21 (2007)

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