Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Disorders of the steroid hormone system

Genetic steroid disorders is a group of diseases that include disturbances of steroid hormone synthesis and action.

Systematic

Hereditary endocrinological diseases
Autoimmune polyendokrinopathy
Disorder of the aldosterone system
Disorder of the thyroid hormon system
Disorders of sex development
Disorders of the growth control system
Disorders of the parathyroid hormone system
Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
GNAS
ACTH-independent macronodular adrenal hyperplasia 2
ARMC5
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
CYP17A1
Disorder of the aldosterone system
Hyperaldosteronism
Conn syndrome
ATP1A1
ATP2B3
CACNA1D
CACNA1H
CTNNB1
KCNJ5
Glucocorticoid triggered hypertension
NR3C1
Hyperaldosteronism type 1
CYP11B1
CYP11B2
Hyperaldosteronism type 2
Hyperaldosteronism type 3
KCNJ5
Hyperaldosteronism type 4
CACNA1D
CACNA1H
Hypoaldosteronism
CYP11B2
Pseudohyperaldosteronism
Apparent mineralocorticoid excess
HSD11B2
Liddle syndrome
NEDD4
NEDD4L
NR3C2
OXSR1
SCNN1B
SCNN1G
STK39
Pregnancy exacerbated hypertension
NR3C2
Pseudohypoaldosteronism
Pseudohypoaldosteronism type 2
CUL3
KLHL3
WNK1
WNK4
Pseudohypoaldosteronism type1
NR3C2
SCNN1A
SCNN1B
SCNN1G
Disordered steroidogenesis due to POR deficiency
POR
Glucocorticoid resistance
NR3C1
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC
Hereditary diabetes insipidus
Hereditary dsorders of the pituitary gland
Kidney disease appearing as endocrinological disorders
Pheochromocytoma

References:

1.

Taylor NF et al. (2006) Urinary steroid profiling.

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2.

Lin-Su K et al. (2008) Congenital adrenal hyperplasia in adolescents: diagnosis and management.

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3.

Honour JW et al. (2010) Steroid assays in paediatric endocrinology.

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4.

Shackleton CH et al. (2012) Role of a disordered steroid metabolome in the elucidation of sterol and steroid biosynthesis.

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5.

Nimkarn S et al. (2011) Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia.

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6.

Lekarev O et al. (2011) Adrenal disease in pregnancy.

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7.

New MI et al. (2012) An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia.

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Update: Sept. 26, 2018