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Elevated serum 11-deoxycortisol

MedGen UID:
1387192
Concept ID:
C4476775
Finding
Synonyms: Elevated serum 21-hydroxyprogesterone; Elevated serum deoxycorticosterone
 
HPO: HP:0025436

Definition

Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. [from HPO]

Term Hierarchy

Conditions with this feature

Deficiency of steroid 11-beta-monooxygenase
MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
MedGen UID:
461449
Concept ID:
C3150099
Disease or Syndrome
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Araujo-Castro M, Hanzu FA, Pascual-Corrales E, García Cano AM, Marchan M, Escobar-Morreale HF, Valderrabano P, Casals G
Endocrine 2023 Oct;82(1):161-170. Epub 2023 Jun 23 doi: 10.1007/s12020-023-03429-0. PMID: 37351760
Karlekar MP, Sarathi V, Lila A, Rai K, Arya S, Bhandare VV, Atluri S, Patil V, Ramteke-Jadhav S, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2021 Apr;94(4):533-543. Epub 2020 Dec 4 doi: 10.1111/cen.14376. PMID: 33275286
Hathout Y, Conklin LS, Seol H, Gordish-Dressman H, Brown KJ, Morgenroth LP, Nagaraju K, Heier CR, Damsker JM, van den Anker JN, Henricson E, Clemens PR, Mah JK, McDonald C, Hoffman EP
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Diagnosis

Karlekar MP, Sarathi V, Lila A, Rai K, Arya S, Bhandare VV, Atluri S, Patil V, Ramteke-Jadhav S, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2021 Apr;94(4):533-543. Epub 2020 Dec 4 doi: 10.1111/cen.14376. PMID: 33275286
Schellevis RL, Altay L, Kalisingh A, Mulders TWF, Sitnilska V, Hoyng CB, Boon CJF, Groenewoud JMM, de Jong EK, den Hollander AI
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Therapy

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Prognosis

Araujo-Castro M, Hanzu FA, Pascual-Corrales E, García Cano AM, Marchan M, Escobar-Morreale HF, Valderrabano P, Casals G
Endocrine 2023 Oct;82(1):161-170. Epub 2023 Jun 23 doi: 10.1007/s12020-023-03429-0. PMID: 37351760
Karlekar MP, Sarathi V, Lila A, Rai K, Arya S, Bhandare VV, Atluri S, Patil V, Ramteke-Jadhav S, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2021 Apr;94(4):533-543. Epub 2020 Dec 4 doi: 10.1111/cen.14376. PMID: 33275286
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Clinical prediction guides

Chen Z, Wei D, Zhao M, Shi J, Ma C, Zhang C, Lin H, Huo W, Wang C, Fan C, Mao Z
J Hypertens 2024 Sep 1;42(9):1555-1565. Epub 2024 May 7 doi: 10.1097/HJH.0000000000003758. PMID: 38747439
Araujo-Castro M, Hanzu FA, Pascual-Corrales E, García Cano AM, Marchan M, Escobar-Morreale HF, Valderrabano P, Casals G
Endocrine 2023 Oct;82(1):161-170. Epub 2023 Jun 23 doi: 10.1007/s12020-023-03429-0. PMID: 37351760
Hanem LGE, Salvesen Ø, Madsen A, Sagen JV, Mellgren G, Juliusson PB, Carlsen SM, Vanky E, Ødegård R
PLoS One 2021;16(9):e0257186. Epub 2021 Sep 9 doi: 10.1371/journal.pone.0257186. PMID: 34499672Free PMC Article
Karlekar MP, Sarathi V, Lila A, Rai K, Arya S, Bhandare VV, Atluri S, Patil V, Ramteke-Jadhav S, Shah NS, Kunwar A, Bandgar T
Clin Endocrinol (Oxf) 2021 Apr;94(4):533-543. Epub 2020 Dec 4 doi: 10.1111/cen.14376. PMID: 33275286
Schellevis RL, Altay L, Kalisingh A, Mulders TWF, Sitnilska V, Hoyng CB, Boon CJF, Groenewoud JMM, de Jong EK, den Hollander AI
Invest Ophthalmol Vis Sci 2019 Aug 1;60(10):3407-3413. doi: 10.1167/iovs.19-26781. PMID: 31387112

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