Lipoid congenital adrenal hyperplasia

A severe hereditary autosomal recessive disorder of steroid hormone biosynthesis. It is caused by a defect in the conversion of CHOLESTEROL to PREGNENOLONE, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy. Mutations in the STAR gene have been identified. OMIM: 201710

Also Known As:

Networked: 42 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Hemochromatosis (Bronze Diabetes)
2.	Factor V Deficiency
3.	Methylenetetrahydrofolate reductase deficiency
4.	Adrenal Insufficiency (Adrenal Gland Hypofunction)
5.	Cushing Syndrome

Experts

1.	Flück, Christa E: 4 articles (01/2020 - 09/2005)
2.	Barbar, Elie: 4 articles (01/2016 - 03/2009)
3.	Lavigne, Pierre: 3 articles (01/2016 - 03/2009)
4.	Achermann, John C: 3 articles (10/2009 - 09/2005)
5.	Camats, Núria: 2 articles (01/2020 - 02/2014)
6.	Pandey, Amit V: 2 articles (01/2020 - 02/2014)
7.	Bose, Himangshu S: 2 articles (01/2017 - 01/2016)
8.	Kaur, Jasmeet: 2 articles (01/2017 - 01/2016)
9.	Ainmelk, Youssef: 2 articles (01/2016 - 04/2009)
10.	Khoury, Khalil: 2 articles (01/2016 - 04/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lipoid congenital adrenal hyperplasia:

1.	Acyl Coenzyme A (Acyl CoA)IBA 12/01/2017 - "Among the high-impact most prevalent conditions in our study (Carrier Map group) were: 21-Hydroxilase-Deficient Congenital Nonclassical Adrenal Hyperplasia (1/8), Factor V deficiency (1/12), Hemochromatosis: Type 1: HFE Related (1/12), Short Chain Acyl-CoA (1/14) and MTHFR deficiency 1/3 (39%). "
2.	SteroidsIBA 01/01/2020 - "Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of CAH, insofar as the initial step of steroid synthesis is impaired. " 05/01/2015 - "This article reported the clinical manifestations, steroid profiles and adrenal ultrasound findings in two unrelated Chinese girls with lipoid congenital adrenal hyperplasia (LCAH). " 01/01/2013 - "Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. " 07/01/2012 - "Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. " 10/01/2009 - "Mutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. "
3.	steroidogenic acute regulatory proteinIBA 01/01/2022 - "Lipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). " 01/01/2020 - "Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia." 05/01/2017 - "A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia." 04/01/2009 - "Mutations in the steroidogenic acute regulatory protein (StAR) gene often cause lipoid congenital adrenal hyperplasia (LCAH). " 12/01/2006 - "Lipoid congenital adrenal hyperplasia is a severe disorder of adrenal and gonadal steroidogenesis caused by mutations in the steroidogenic acute regulatory protein (StAR). "
4.	Proteins (Proteins, Gene)FDA Link 01/01/2020 - "Although mutations in this protein have been linked to lipoid congenital adrenal hyperplasia (LCAH), the mechanism of steroidogenesis regulation by STARD1 remains debatable. " 01/01/2017 - "Mutations in the STAR protein result in lipoid congenital adrenal hyperplasia (CAH). " 01/01/2016 - "Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. " 08/01/1998 - "To explore the function of StAR in a system that can be experimentally manipulated, and to develop a mouse model for the human disorder lipoid congenital adrenal hyperplasia (lipoid CAH), we used targeted gene disruption to produce a mouse line deficient in StAR protein. " 08/01/1998 - "A point mutant of StAR (A218V) that causes lipoid congenital adrenal hyperplasia was incorporated into the His-tag protein. "
5.	Adrenocorticotropic Hormone (ACTH)FDA Link 01/09/1991 - "Detailed etiological diagnosis is important in Cushing's syndrome since therapeutic measures differ widely: the etiologies in the 20 patients with Cushing's syndrome were: central Cushing's disease (microadenoma in 11, pituitary carcinoma in 1), adrenal carcinoma (3), adrenal adenoma (1), adrenal hyperplasia (1), ectopic ACTH production (2) and alcohol-induced Cushing's syndrome (1). " 05/15/1990 - "One hundred and twenty-one patients with the Cushing syndrome were evaluated: corticotropin (ACTH)-secreting pituitary tumors, 90 cases; adrenal adenoma, 13; adrenal carcinoma, 9; ectopic ACTH-secreting tumors, 6; corticotropin-releasing-hormone (CRH)-secreting tumors, 2; and autonomous bilateral micronodular adrenal hyperplasia, 1. The continuous intravenous dexamethasone suppression test was done in 101 patients. " 07/01/1985 - "We investigated basal and ACTH stimulated levels of cortisol, corticosterone, 17 alpha-hydroxyprogesterone, 11-deoxycortisol and 11-deoxycorticosterone as well as plasma levels of ACTH before and during the oral administration of ketoconazole in five patients with Cushing's syndrome (3 with bilateral adrenal hyperplasia, 1 with adrenal adenoma and 1 with adrenal carcinoma) and in three controls. "
6.	Hormones (Hormone)IBA 02/18/2021 - "Mutations in STAR cause lipoid congenital adrenal hyperplasia (lipoid CAH), a disorder characterized by severe defects in adrenal and gonadal steroid production; in Leydig cells, the defects are seen mainly after the onset of hormone-dependent androgen formation. " 04/01/2009 - "This gives rise to the accumulation of cytoplasmic cholesterol, a deficit in steroid hormone production and to the medical condition of lipoid congenital adrenal hyperplasia. "
7.	GlucocorticoidsIBA 01/01/2018 - "Several mutations have been described and the clinical phenotype varies strongly and may be grouped into classic lipoid congenital adrenal hyperplasia (LCAH), in which all steroidogenesis is disrupted, and non-classic LCAH, which resembles familial glucocorticoid deficiency (FGD), which affects predominantly adrenal functions. " 10/01/2009 - "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency."
8.	CholesterolIBA 01/01/2016 - "Lipoid congenital adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is most commonly caused by mutations in steroidogenic acute regulatory protein (STAR), which is required for the movement of cholesterol from the outer to the inner mitochondrial membranes to synthesize pregnenolone. " 04/01/2009 - "This gives rise to the accumulation of cytoplasmic cholesterol, a deficit in steroid hormone production and to the medical condition of lipoid congenital adrenal hyperplasia. "
9.	17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA 07/01/1985 - "We investigated basal and ACTH stimulated levels of cortisol, corticosterone, 17 alpha-hydroxyprogesterone, 11-deoxycortisol and 11-deoxycorticosterone as well as plasma levels of ACTH before and during the oral administration of ketoconazole in five patients with Cushing's syndrome (3 with bilateral adrenal hyperplasia, 1 with adrenal adenoma and 1 with adrenal carcinoma) and in three controls. "
10.	Prostaglandins DIBA 09/01/2009 - "Proof of principle for the simplicity and flexibility of the assay was demonstrated through its application to clinical PGD cycles for lipoid congenital adrenal hyperplasia, which presents a more severe clinical course in males, and Duchenne muscular dystrophy."

Therapies and Procedures

1.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 03/05/2009 - "Mutations in the StAR gene can lead to lipoid congenital adrenal hyperplasia (LCAH), a disease that is fatal if not treated with hormone replacement therapy. "
2.	Radiotherapy 01/01/1987 - "Among 56 slipped capital femoral epiphysis (SCFE) treated over 12 years, the authors report 10 particular cases: 3 hypopituitarisms, 1 adrenal hyperplasia, 1 case after radiotherapy, 2 osteochondrodysplasia, 2 cases with major defect of the posterior wall of femoral neck and 1 coxa valga slip. "
3.	Oral Administration 07/01/1985 - "We investigated basal and ACTH stimulated levels of cortisol, corticosterone, 17 alpha-hydroxyprogesterone, 11-deoxycortisol and 11-deoxycorticosterone as well as plasma levels of ACTH before and during the oral administration of ketoconazole in five patients with Cushing's syndrome (3 with bilateral adrenal hyperplasia, 1 with adrenal adenoma and 1 with adrenal carcinoma) and in three controls. "