U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Congenital adrenal hypoplasia

MedGen UID:
65094
Concept ID:
C0220766
Congenital Abnormality
Synonyms: Adrenal hypoplasia, congenital; ADRENAL HYPOPLASIA, CONGENITAL
SNOMED CT: Congenital hypoplasia of adrenal gland (93235007); Congenital small adrenal gland (93235007); Congenital adrenal hypoplasia (93235007); CAH - Congenital adrenal hypoplasia (93235007)
 
HPO: HP:0008244
OMIM®: 300473

Definition

A type of adrenal hypoplasia with congenital onset. [from HPO]

Term Hierarchy

Conditions with this feature

Familial adrenal hypoplasia with absent pituitary luteinizing hormone
MedGen UID:
348510
Concept ID:
C1859978
Disease or Syndrome
Familial adrenal hypoplasia with absent pituitary luteinizing hormone is a rare endocrine disease characterized by a miniature adult type of congenital adrenal hypoplasia (residual adrenal cortex is composed of a small amount of permanent adult cortex with normal structural organization), selective absence of pituitary luteinizing hormone in otherwise normal brain, and neonatal demise. Patients present with hypogonadotropic hypogonadism, hypoglycemia, seizures, encephalopathy and diabetes insipidus. There have been no further descriptions in the literature since 1988.
Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
MedGen UID:
1684464
Concept ID:
C5193036
Disease or Syndrome
IMAGEI is an autosomal recessive disorder characterized by intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency. Patients exhibit distinctive facial features and variable immune dysfunction with evidence of lymphocyte deficiency (Logan et al., 2018). An autosomal dominant form of the disorder, without immunodeficiency (IMAGE; 614732), is caused by mutation in the CDKN1C gene (600856) on chromosome 11p15.

Professional guidelines

PubMed

Çamtosun E, Dündar İ, Akıncı A, Kayaş L, Çiftci N
J Clin Res Pediatr Endocrinol 2021 Feb 26;13(1):88-99. Epub 2020 Sep 17 doi: 10.4274/jcrpe.galenos.2020.2020.0132. PMID: 32938577Free PMC Article
Singhi SC, Shah R, Bansal A, Jayashree M
Indian J Pediatr 2013 Apr;80(4):318-25. Epub 2013 Jan 23 doi: 10.1007/s12098-012-0959-6. PMID: 23340985

Recent clinical studies

Etiology

Esquiaveto-Aun AM, de Mello MP, Guaragna MS, da Silva Lopes VLG, Francese-Santos AP, Dos Santos Cruz Piveta C, Mazolla TN, de Lemos-Marini SHV, Guerra-Junior G
Am J Med Genet A 2024 Jun;194(6):e63536. Epub 2024 Jan 19 doi: 10.1002/ajmg.a.63536. PMID: 38243380
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Bertalan R, Bencsik Z, Mezei P, Vajda Z, Butz H, Patócs A
Mol Biol Rep 2019 Aug;46(4):4599-4604. Epub 2019 Jul 6 doi: 10.1007/s11033-019-04688-9. PMID: 31280422
Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M, Ranke MB
Clin Endocrinol (Oxf) 2000 Aug;53(2):249-55. doi: 10.1046/j.1365-2265.2000.01038.x. PMID: 10931108
Brown W, Singer DB
Obstet Gynecol 1988 Aug;72(2):190-4. PMID: 3393361

Diagnosis

Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X
BMC Endocr Disord 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8. PMID: 34130666Free PMC Article
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S
Ann Endocrinol (Paris) 2014 May;75(2):126-7. Epub 2014 Apr 21 doi: 10.1016/j.ando.2014.03.003. PMID: 24751136
Bertorini TE, Perez A
Handb Clin Neurol 2014;120:749-71. doi: 10.1016/B978-0-7020-4087-0.00050-4. PMID: 24365350
Wikiera B, Jakubiak A, Zimowski J, Noczyńska A, Smigiel R
Pediatr Endocrinol Diabetes Metab 2012;18(4):153-7. PMID: 23739620
Landau Z, Hanukoglu A, Sack J, Goldstein N, Weintrob N, Eliakim A, Gillis D, Sagi M, Shomrat R, Kosinovsky EB, Anikster Y
Clin Endocrinol (Oxf) 2010 Apr;72(4):448-54. Epub 2009 Jun 8 doi: 10.1111/j.1365-2265.2009.03652.x. PMID: 19508677

Therapy

Teoli J, Mezzarobba V, Renault L, Mallet D, Lejeune H, Chatelain P, Tixier F, Nicolino M, Peretti N, Giscard D'estaing S, Cuzin B, Dijoud F, Roucher-Boulez F, Plotton I
Front Endocrinol (Lausanne) 2022;13:855082. Epub 2022 Mar 30 doi: 10.3389/fendo.2022.855082. PMID: 35432221Free PMC Article
Ravel C, Hyon C, Siffroi JP, Christin-Maitre S
Ann Endocrinol (Paris) 2014 May;75(2):126-7. Epub 2014 Apr 21 doi: 10.1016/j.ando.2014.03.003. PMID: 24751136
Singhi SC, Shah R, Bansal A, Jayashree M
Indian J Pediatr 2013 Apr;80(4):318-25. Epub 2013 Jan 23 doi: 10.1007/s12098-012-0959-6. PMID: 23340985
Roberts G, Cawdery JE
J Obstet Gynaecol Br Commonw 1970 Jul;77(7):654-6. doi: 10.1111/j.1471-0528.1970.tb03587.x. PMID: 5464789
Uttley WS
Arch Dis Child 1968 Dec;43(232):724-30. doi: 10.1136/adc.43.232.724. PMID: 5702234Free PMC Article

Prognosis

Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T
J Clin Endocrinol Metab 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. PMID: 37878959
Ouyang H, Chen B, Wu N, Li L, Du R, Qian M, Yu W, He Y, Liu X
BMC Endocr Disord 2021 Jun 15;21(1):118. doi: 10.1186/s12902-021-00785-8. PMID: 34130666Free PMC Article
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Binder G, Wollmann H, Schwarze CP, Strom TM, Peter M, Ranke MB
Clin Endocrinol (Oxf) 2000 Aug;53(2):249-55. doi: 10.1046/j.1365-2265.2000.01038.x. PMID: 10931108
Bourgeois MJ, Jones B, Waagner DC, Dunn D
Am J Perinatol 1989 Jan;6(1):69-71. doi: 10.1055/s-2007-999548. PMID: 2910322

Clinical prediction guides

Amano N, Narumi S, Aizu K, Miyazawa M, Okamura K, Ohashi H, Katsumata N, Ishii T, Hasegawa T
J Clin Endocrinol Metab 2024 Feb 20;109(3):641-648. doi: 10.1210/clinem/dgad627. PMID: 37878959
Teoli J, Mezzarobba V, Renault L, Mallet D, Lejeune H, Chatelain P, Tixier F, Nicolino M, Peretti N, Giscard D'estaing S, Cuzin B, Dijoud F, Roucher-Boulez F, Plotton I
Front Endocrinol (Lausanne) 2022;13:855082. Epub 2022 Mar 30 doi: 10.3389/fendo.2022.855082. PMID: 35432221Free PMC Article
Wu SM, Gao JZ, He B, Long WJ, Luo XP, Chen L
Curr Med Sci 2020 Feb;40(1):172-177. Epub 2020 Mar 13 doi: 10.1007/s11596-020-2161-9. PMID: 32166680
Abraham MB, Shetty VB, McKenzie F, Curran J
Indian Pediatr 2016 Jun 8;53(6):529-31. doi: 10.1007/s13312-016-0885-1. PMID: 27376611
Walker AP, Fowkes RC, Saleh F, Kim SH, Wilkinson P, Cabrera-Sharp V, Talmud PJ, Humphries SE, Looijenga LH, Bouloux PM
Sex Dev 2012;6(6):284-91. Epub 2012 Sep 27 doi: 10.1159/000342295. PMID: 23018754

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...