Congenital adrenal hyperplasia
... (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. ... It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of ... or sex steroids from cholesterol by the adrenal glands (steroidogenesis). Each form of CAH is associated with a specific ...
Lipoid congenital adrenal hyperplasia
... is an endocrine disorder that is an uncommon and potentially lethal form of congenital ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatr ... Kim, Chan Jong (December 2014). "Congenital lipoid adrenal hyperplasia". Annals of Pediatric Endocrinology & Metabolism. 19 (4 ...
Late onset congenital adrenal hyperplasia
... (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency Lipoid congenital adrenal hyperplasia Adriaansen, Bas P. H.; ... Tsai WH, Wong CH, Dai SH, Tsai CH, Zeng YH (2020). "Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia". ... Turcu AF, Auchus RJ (June 2015). "Adrenal steroidogenesis and congenital adrenal hyperplasia". Endocrinology and Metabolism ...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ( ... adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia". The ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... "Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia". The ...
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
... is an uncommon form of congenital adrenal hyperplasia ... Krone, Nils; Dhir, Vivek; Ivison, Hannah E.; Arlt, Wiebke (2007). "Congenital adrenal hyperplasia and P450 oxidoreductase ... Online Mendelian Inheritance in Man (OMIM): ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY - 202110 ... of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
... is a form of congenital adrenal hyperplasia (CAH) which ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of ... See congenital adrenal hyperplasia for a more detailed discussion of androgen suppression and fertility potential in adolescent ...
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
... is an uncommon form of congenital adrenal ... Congenital Adrenal Hyperplasia, P Stewart, Chapter 14, Section IV, Williams Textbook of Endocrinology, 11th edition, Elsevier, ... The sex steroid consequences of severe 3β-HSD CAH are unique among the congenital adrenal hyperplasias: it is the only form of ... "Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency". Semin. Reprod ...
Sexual anomalies
17-Hydroxyprogesterone can be used to screen for congenital adrenal hyperplasia (CAH). This is commonly found in patients with ... Momodu, Ifeanyi; Lee, Brian; Singh, Gurdeep (2021-02-05). "Congenital Adrenal Hyperplasia". StatPearls. Witchel, Selma Feldman ... Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are ... Patients that are deficient in hormones produced by the adrenal glands require immediate medical attention. They are given a ...
Pubarche
Witchel SF (October 2017). "Congenital Adrenal Hyperplasia". Journal of Pediatric and Adolescent Gynecology. 30 (5): 520-534. ... and classic and non-classic congenital adrenal hyperplasia. When premature pubarche has been identified, the clinical ... Adrenal insufficiency is a life-threatening medical condition in which the adrenal gland is damaged. This leads to not enough ... Therefore, if signs and symptoms of adrenal insufficiency are present such as fatigue, weakness, abdominal pain, or any history ...
Hyperplasia
Congenital adrenal hyperplasia - Inherited disorder of gland (adrenal). Endometrial hyperplasia - Hyperproliferation of the ... "Congenital adrenal hyperplasia". MedlinePlus Medical Encyclopedia. National Library of Medicine, U.S. Department of Health and ... Benign prostatic hyperplasia, also known as prostate enlargement. Cushing's disease - Physiopathology of hyperplasia of adrenal ... Hyperplasia of the breast - "Hyperplastic" lesions of the breast include usual ductal hyperplasia, a focal expansion of the ...
21-Hydroxylase
... -Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ... Non-classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (NCCAH) is a milder and late-onset congenital ... "Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Genetic and Rare Diseases Information Center ( ... November 2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical ...
Disorders of sex development
Lipoid congenital adrenal hyperplasia - An endocrine disorder that arises from defects in the earliest stages of steroid ... Congenital adrenal hyperplasia (CAH) - A condition that causes excessive androgen production, which causes excessive ... Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY ... Similarly, some clinicians have proposed that congenital adrenal hyperplasia be excluded. Human rights advocate Morgan ...
Steroid
For example, in one form of congenital adrenal hyperplasia a deficiency in the 21-hydroxylase enzymatic pathway leads to an ... Witchel SF, Azziz R (2010). "Nonclassic congenital adrenal hyperplasia". International Journal of Pediatric Endocrinology. 2010 ... "Treatment and health outcomes in adults with congenital adrenal hyperplasia". Nature Reviews. Endocrinology. 10 (2): 115-24. ... Adrenal steroidogenesis pathway. Greep RO, ed. (22 October 2013). "Cortoic acids". Recent Progress in Hormone Research: ...
Intersex
The causes of this can be male hormones taken during pregnancy, congenital adrenal hyperplasia, male-hormone-producing tumors ... Merke DP, Auchus RJ (September 2020). "Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency". The New England ... Witchel, Selma Feldman; Azziz, Ricardo (2010). "Nonclassic Congenital Adrenal Hyperplasia". International Journal of Pediatric ... "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". The ...
Hyperaldosteronism
Also, see congenital adrenal hyperplasia. Adrenal carcinoma is an extremely rare cause of primary hyperaldosteronism.[citation ... Bilateral micronodular hyperplasia is more common than unilateral adrenal adenoma. It can be asymptomatic, but these symptoms ... However, recent studies have shown that bilateral idiopathic adrenal hyperplasia is the cause in up to 70% of cases. ... alkalosis Nocturia Blurry Vision Dizziness/Vertigo The causes of primary hyperaldosteronism are adrenal hyperplasia and adrenal ...
Adrenal gland
Congenital adrenal hyperplasia is a family of congenital diseases in which mutations of enzymes that produce steroid hormones ... Congenital adrenal hyperplasia is a genetic disease produced by dysregulation of endocrine control mechanisms. A variety of ... For example, the most common form of congenital adrenal hyperplasia develops as a result of deficiency of 21-hydroxylase, an ... The most common form of congenital adrenal hyperplasia is due to 21-hydroxylase deficiency. 21-hydroxylase is necessary for ...
RCCX
The CYP21A2 gene is associated with developing congenital adrenal hyperplasia due to 21-hydroxylase deficiency, a genetic ... from the clinics of congenital adrenal hyperplasia to evolutionary genetics". Eur J Hum Genet. 25 (6): 702-710. doi:10.1038/ ... "21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia". PMID 20301350. {{cite journal}}: Cite journal requires ,journal= ( ... "Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". BMC Endocrine Disorders ...
Clitoromegaly
If present at birth, congenital adrenal hyperplasia can be one of the causes, since in this condition the adrenal gland of the ... "Congenital Adrenal Hyperplasia(CAH), Prader Scale". Archived from the original on 2008-05-09. Retrieved 2008-09-28. Beischer NA ... It can also be caused by the autosomal recessive congenital disorder known as Fraser syndrome. In acquired clitoromegaly, the ... Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though ...
Intersex medical interventions
A rarer indication would be that of a completely virilized XX child with congenital adrenal hyperplasia (Prader stage 5) being ... A child regarded as a severely virilized girl with congenital adrenal hyperplasia (CAH) may undergo both a partial clitoral ... Meyer-Bahlburg, H. F. L. (1 June 1999). "What Causes Low Rates of Child-Bearing in Congenital Adrenal Hyperplasia?". The ... 2) In rare instances when an XX child has completely virilizing congenital adrenal hyperplasia (Prader stage 5), the ovaries ...
Orchidometer
ISBN 978-3-662-52782-5. Hindmarsh, Peter C.; Geertsma, Kathy (2017). Congenital Adrenal Hyperplasia: A Comprehensive Guide. ... ISBN 978-0-12-811483-4. Hindmarsh, Peter C.; Geertsma, Kathy (2017). Congenital Adrenal Hyperplasia: A Comprehensive Guide. ...
Androgen backdoor pathway
Late onset congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency This article ... Turcu, Adina F.; Auchus, Richard J. (2015). "Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia". Endocrinology and ... In congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase or cytochrome P450 oxidoreductase (POR), the ... for Management of Congenital Adrenal Hyperplasia". Journal of the Endocrine Society. 1 (3): 186-201. doi:10.1210/js.2016-1048. ...
11β-Hydroxyprogesterone
Turcu AF, Auchus RJ (June 2015). "Adrenal steroidogenesis and congenital adrenal hyperplasia". Endocrinology and Metabolism ... 2004). "Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ... for Management of Congenital Adrenal Hyperplasia". primary. Journal of the Endocrine Society. 1 (3): 186-201. doi:10.1210/js. ... "11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency". The ...
21-Deoxycortisol
"Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia". The Journal ... As 21-deoxycortisol can be at high levels in congenital adrenal hyperplasia, and it has structural similarity to cortisol, it ... November 2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical ... 21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, even in mild (non-classic) ...
Murder of Nubia Barahona
Nubia was born with congenital adrenal hyperplasia. It was recommended she be placed in a medical foster home, but she was ...
Cholesterol side-chain cleavage enzyme
Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatric ... causing a minority of cases of the rare and potentially fatal condition lipoid congenital adrenal hyperplasia. Deficiency of ... deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes". ... In adrenal cortex cells from zona fasciculata, the expression of the mRNAs encoding all three P450scc proteins is induced by ...
Vaginal stenosis
... is the most common post-operative complication in people with congenital adrenal hyperplasia who have genital ... Vaginal stenosis can also result from genital reconstructive surgery in people with congenital adrenal hyperplasia. Common ... Merke DP, Poppas DP (2013). "Management of adolescents with congenital adrenal hyperplasia". The Lancet. Diabetes & ... "Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every ...
Steroidogenic acute regulatory protein
Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatr ... "Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late ... "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency". J. Clin. Endocrinol. ... DBP Permethrin and cypermethrin DES and arsenite BPA Mutations in the gene for StAR cause lipoid congenital adrenal hyperplasia ...
Vaginal anomalies
Congenital adrenal hyperplasia can cause the abnormal development of the vagina. Vaginal adenosis is the abnormal presence of ... "Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology". 2017-02-21. {{cite journal}}: Cite journal ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal ... "Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every ...
Infertility
Reichman DE, White PC, New MI, Rosenwaks Z (February 2014). "Fertility in patients with congenital adrenal hyperplasia". ... General factors Diabetes mellitus, thyroid disorders, undiagnosed and untreated coeliac disease, adrenal disease Hypothalamic- ...
List of disorders included in newborn screening programs
1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in 25,000 Classical galactosemia (GALT) > 1 in 50,000 Newborn screening by ... Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians ... Severe combined immune deficiency (SCID) - added in 2009 Critical congenital heart defects (Screened using pulse oximetry) - ... 1 in 5,000 Congenital hypothyroidism (CH) > 1 in 5,000 Biotinidase deficiency (BIOT) > ...