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Adrenal hyperplasia

MedGen UID:
301220
Concept ID:
C1621895
Disease or Syndrome
Synonyms: Adrenal Gland Hyperplasia; Adrenal Hyperplasia; Enlarged adrenal glands
SNOMED CT: Adrenal hyperplasia (419920004)
 
HPO: HP:0008221

Definition

Enlargement of the adrenal gland. [from HPO]

Conditions with this feature

Cushing syndrome
MedGen UID:
3681
Concept ID:
C0010481
Disease or Syndrome
Cushing's syndrome (CS) encompasses a group of hormonal disorders caused by prolonged and high exposure levels to glucocorticoids that can be of either endogenous (adrenal cortex production) or exogenous (iatrogenic) origin.
Deficiency of steroid 17-alpha-monooxygenase
MedGen UID:
82782
Concept ID:
C0268285
Disease or Syndrome
17 alpha(a)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17a-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17a-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.\n\nHormone imbalances lead to the characteristic signs and symptoms of 17a-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17a-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17a-hydroxylase/17,20-lyase deficiency, which is typically less so.\n\nMales and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17a-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17a-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17a-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).\n\nIn affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17a-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with partial 17a-hydroxylase/17,20-lyase deficiency usually have abnormal male genitalia, such as a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17a-hydroxylase/17,20-lyase deficiency are also infertile.
3 beta-Hydroxysteroid dehydrogenase deficiency
MedGen UID:
452446
Concept ID:
C0342471
Disease or Syndrome
Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization (summary by Rheaume et al., 1992).
Hyperaldosteronism, familial, type I
MedGen UID:
224694
Concept ID:
C1260386
Disease or Syndrome
Glucocorticoid-remediable aldosteronism is an autosomal dominant disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol (Lifton et al., 1992). There is significant phenotypic heterogeneity, and some individuals never develop hypertension (Stowasser et al., 2000). Genetic Heterogeneity of Familial Hyperaldosteronism Familial hyperaldosteronism type II (HALD2; 605635) is caused by mutation in the CLCN2 gene (600570) on chromosome 3q27. Familial hyperaldosteronism type III (HALD3; 613677) is caused by mutation in the KCNJ5 gene (600734) on chromosome 11q24. Familial hyperaldosteronism type IV (HALD4; 617027) is caused by mutation in the CACNA1H gene (607904) on chromosome 16p13.
ACTH-independent macronodular adrenal hyperplasia 1
MedGen UID:
347456
Concept ID:
C1857451
Disease or Syndrome
ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see 610489), which is often a component of the Carney complex (160980) and associated with mutations in the PRKAR1A gene (188830) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005). See also ACTH-independent Cushing syndrome (615830) due to somatic mutation in the PRKACA gene (601639). Cushing 'disease' (219090) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal Hyperplasia AIMAH2 (615954) is caused by germline mutation of 1 allele of the ARMC5 gene (615549) coupled with a somatic mutation in the other allele.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
MedGen UID:
424833
Concept ID:
C2936858
Congenital Abnormality
21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. In 21-OHD CAH, excessive adrenal androgen biosynthesis results in virilization in all individuals and salt wasting in some individuals. A classic form with severe enzyme deficiency and prenatal onset of virilization is distinguished from a non-classic form with mild enzyme deficiency and postnatal onset. The classic form is further divided into the simple virilizing form (~25% of affected individuals) and the salt-wasting form, in which aldosterone production is inadequate (=75% of individuals). Newborns with salt-wasting 21-OHD CAH are at risk for life-threatening salt-wasting crises. Individuals with the non-classic form of 21-OHD CAH present postnatally with signs of hyperandrogenism; females with the non-classic form are not virilized at birth.
Familial hyperaldosteronism type 3
MedGen UID:
462283
Concept ID:
C3150933
Disease or Syndrome
This form of hyperaldosteronism is characterized by hypertension secondary to massive adrenal mineralocorticoid production. Like patients with glucocorticoid-remediable aldosteronism (GRA, or FH I; 103900), patients with FH III present with childhood hypertension, elevated aldosteronism levels, and high levels of the hybrid steroids 18-oxocortisol and 18-hydroxycortisol. However, hypertension and aldosteronism in FH III are not reversed by administration of exogenous glucocorticoids and patients require adrenalectomy to control hypertension (Geller et al., 2008). Reviews Mulatero et al. (2013) reviewed the role of KCNJ5 in adrenal pathophysiology and provided an overview of the clinical and biochemical phenotypes resulting from KCNJ5 mutations in patients with sporadic and familial primary aldosteronism. The authors stated that the prevalence of FH III appeared to be 7% of patients with familial aldosteronism and 0.3% of all cases of primary hyperaldosteronism. In addition, they noted that the total prevalence of reported KCNJ5 mutations in aldosterone-producing adrenal adenomas (APAs) was 40%.
Pigmented nodular adrenocortical disease, primary, 3
MedGen UID:
481724
Concept ID:
C3280094
Disease or Syndrome
Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene.
Pigmented nodular adrenocortical disease, primary, 4
MedGen UID:
862862
Concept ID:
C4014425
Disease or Syndrome
Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

Recent clinical studies

Etiology

Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
Oriolo C, Fanelli F, Castelli S, Mezzullo M, Altieri P, Corzani F, Pelusi C, Repaci A, Di Dalmazi G, Vicennati V, Baldazzi L, Menabò S, Dormi A, Nardi E, Brillanti G, Pasquali R, Pagotto U, Gambineri A
J Endocrinol Invest 2020 Oct;43(10):1499-1509. Epub 2020 Mar 31 doi: 10.1007/s40618-020-01235-3. PMID: 32236851
Segev-Becker A, Jacobson R, Stein R, Eyal O, Oren A, Schachter-Davidov A, Israeli G, Lebenthal Y, Weintrob N
Endocr Pract 2020 May;26(5):535-542. Epub 2020 Jan 22 doi: 10.4158/EP-2019-0509. PMID: 31968200
Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, Krebs M, Kautzky-Willer A, Kirchheiner K, Luger A, Bayerle-Eder M
J Sex Med 2019 Oct;16(10):1529-1540. Epub 2019 Aug 22 doi: 10.1016/j.jsxm.2019.07.009. PMID: 31447379
El-Maouche D, Hannah-Shmouni F, Mallappa A, Hargreaves CJ, Avila NA, Merke DP
Clin Endocrinol (Oxf) 2019 Aug;91(2):247-255. Epub 2019 May 7 doi: 10.1111/cen.13996. PMID: 31001843Free PMC Article

Diagnosis

Szymanski KM, Braga LH, Whittam B, Kokorowski P, Leland BD
J Urol 2021 Jun;205(6):1770-1777. Epub 2021 Feb 2 doi: 10.1097/JU.0000000000001573. PMID: 33525923
Bouzidi L, Triki M, Charfi S, Ameur HB, Dhaou MB, Bouaziz T, Boudawara T
Pediatr Dev Pathol 2021 Mar-Apr;24(2):137-141. Epub 2021 Jan 12 doi: 10.1177/1093526620980614. PMID: 33433255
Zhang T, Ma X, Wang J, Jia C, Wang W, Dong Z, Ye L, Sun S, Hu R, Ning G, Li C, Lu W
J Steroid Biochem Mol Biol 2021 Feb;206:105788. Epub 2020 Nov 20 doi: 10.1016/j.jsbmb.2020.105788. PMID: 33227378
Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
Garg M, Chugh V, Dutt Sharma S, Mitharwal P, Mangla A
J Pediatr Endocrinol Metab 2020 Nov 26;33(11):1507-1509. doi: 10.1515/jpem-2020-0211. PMID: 32841165

Therapy

Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T
J Clin Endocrinol Metab 2020 Nov 1;105(11) doi: 10.1210/clinem/dgaa557. PMID: 32835366
Khanal D, Mandal D, Phuyal R, Adhikari U
JNMA J Nepal Med Assoc 2020 Jan;58(221):56-58. PMID: 32335642Free PMC Article
Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527
El-Maouche D, Hannah-Shmouni F, Mallappa A, Hargreaves CJ, Avila NA, Merke DP
Clin Endocrinol (Oxf) 2019 Aug;91(2):247-255. Epub 2019 May 7 doi: 10.1111/cen.13996. PMID: 31001843Free PMC Article
Tuhan H, Demircan T, Altıncık A, Çatlı G, Kızılca Ö, Egeli T, Kır M, Can Ş, Dündar B, Böber E, Abacı A
Cardiol Young 2019 Mar;29(3):319-324. Epub 2019 Jan 24 doi: 10.1017/S1047951118002330. PMID: 30675832

Prognosis

Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M
J Steroid Biochem Mol Biol 2021 Jul;211:105882. Epub 2021 Mar 27 doi: 10.1016/j.jsbmb.2021.105882. PMID: 33785438
Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
Ishii T, Tajima T, Kashimada K, Mukai T, Tanahashi Y, Katsumata N, Kanno J, Hamajima T, Miyako K, Ida S, Hasegawa T
J Clin Endocrinol Metab 2020 Nov 1;105(11) doi: 10.1210/clinem/dgaa557. PMID: 32835366
Reisch N
Endocrinol Metab Clin North Am 2019 Sep;48(3):619-641. doi: 10.1016/j.ecl.2019.05.011. PMID: 31345527
Kopacek C, Prado MJ, da Silva CMD, de Castro SM, Beltrão LA, Vargas PR, Grandi T, Rossetti MLR, Spritzer PM
J Pediatr (Rio J) 2019 May - Jun;95(3):282-290. Epub 2018 Apr 30 doi: 10.1016/j.jped.2018.03.003. PMID: 29715434

Clinical prediction guides

Espinosa Reyes TM, Collazo Mesa T, Lantigua Cruz PA, Agramonte Machado A, Domínguez Alonso E, Falhammar H
BMC Endocr Disord 2020 Nov 9;20(1):165. doi: 10.1186/s12902-020-00643-z. PMID: 33168061Free PMC Article
Oriolo C, Fanelli F, Castelli S, Mezzullo M, Altieri P, Corzani F, Pelusi C, Repaci A, Di Dalmazi G, Vicennati V, Baldazzi L, Menabò S, Dormi A, Nardi E, Brillanti G, Pasquali R, Pagotto U, Gambineri A
J Endocrinol Invest 2020 Oct;43(10):1499-1509. Epub 2020 Mar 31 doi: 10.1007/s40618-020-01235-3. PMID: 32236851
Schernthaner-Reiter MH, Baumgartner-Parzer S, Egarter HC, Krebs M, Kautzky-Willer A, Kirchheiner K, Luger A, Bayerle-Eder M
J Sex Med 2019 Oct;16(10):1529-1540. Epub 2019 Aug 22 doi: 10.1016/j.jsxm.2019.07.009. PMID: 31447379
El-Maouche D, Hannah-Shmouni F, Mallappa A, Hargreaves CJ, Avila NA, Merke DP
Clin Endocrinol (Oxf) 2019 Aug;91(2):247-255. Epub 2019 May 7 doi: 10.1111/cen.13996. PMID: 31001843Free PMC Article
Tuhan H, Demircan T, Altıncık A, Çatlı G, Kızılca Ö, Egeli T, Kır M, Can Ş, Dündar B, Böber E, Abacı A
Cardiol Young 2019 Mar;29(3):319-324. Epub 2019 Jan 24 doi: 10.1017/S1047951118002330. PMID: 30675832

Recent systematic reviews

Richards G, Browne WV, Aydin E, Constantinescu M, Nave G, Kim MS, Watson SJ
Horm Behav 2020 Nov;126:104867. Epub 2020 Oct 6 doi: 10.1016/j.yhbeh.2020.104867. PMID: 32998030
Xu L, Lin W, Cai L, Huang H, Liang J, Li L, Zong L, Wang N, Wen J, Chen G
Clin Endocrinol (Oxf) 2020 Feb;92(2):109-123. Epub 2019 Dec 2 doi: 10.1111/cen.14126. PMID: 31715010
Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH
J Clin Endocrinol Metab 2018 Nov 1;103(11):4089-4096. doi: 10.1210/jc.2018-01863. PMID: 30272250
Tamhane S, Rodriguez-Gutierrez R, Iqbal AM, Prokop LJ, Bancos I, Speiser PW, Murad MH
J Clin Endocrinol Metab 2018 Nov 1;103(11):4097-4103. doi: 10.1210/jc.2018-01862. PMID: 30272185
Carmina E, Dewailly D, Escobar-Morreale HF, Kelestimur F, Moran C, Oberfield S, Witchel SF, Azziz R
Hum Reprod Update 2017 Sep 1;23(5):580-599. doi: 10.1093/humupd/dmx014. PMID: 28582566

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