Congenital adrenal hyperplasia: Difference between revisions

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==Complications==
==Complications==
Complications of diabetes mellitus may be classified as [[Acute (medicine)|acute]] or [[Chronic (medical)|chronic]]. Acute complications of diabetes mellitus may occur in [[Diabetes mellitus type 1|type 1]], [[Diabetes mellitus type 2|type 2]], or [[gestational diabetes]]. Chronic complications of diabetes mellitus are more likely to occur in long standing [[Diabetes mellitus type 1|type 1]] or [[Diabetes mellitus type 2|type 2]] diabetes and may be further classified as [[Macrovascular disease|macrovascular,]] [[Microvascular disease|microvascular]], or other (unspecified etiology) as follows:<ref name="pmid21366474">{{cite journal |vauthors=Seshasai SR, Kaptoge S, Thompson A, Di Angelantonio E, Gao P, Sarwar N, Whincup PH, Mukamal KJ, Gillum RF, Holme I, Njølstad I, Fletcher A, Nilsson P, Lewington S, Collins R, Gudnason V, Thompson SG, Sattar N, Selvin E, Hu FB, Danesh J |title=Diabetes mellitus, fasting glucose, and risk of cause-specific death |journal=N. Engl. J. Med. |volume=364 |issue=9 |pages=829–41 |year=2011 |pmid=21366474 |pmc=4109980 |doi=10.1056/NEJMoa1008862 |url=}}</ref><ref name="pmid17563022">{{cite journal |vauthors=Franco OH, Steyerberg EW, Hu FB, Mackenbach J, Nusselder W |title=Associations of diabetes mellitus with total life expectancy and life expectancy with and without cardiovascular disease |journal=Arch. Intern. Med. |volume=167 |issue=11 |pages=1145–51 |year=2007 |pmid=17563022 |doi=10.1001/archinte.167.11.1145 |url=}}</ref><ref name="pmid25562264">{{cite journal |vauthors=Livingstone SJ, Levin D, Looker HC, Lindsay RS, Wild SH, Joss N, Leese G, Leslie P, McCrimmon RJ, Metcalfe W, McKnight JA, Morris AD, Pearson DW, Petrie JR, Philip S, Sattar NA, Traynor JP, Colhoun HM |title=Estimated life expectancy in a Scottish cohort with type 1 diabetes, 2008-2010 |journal=JAMA |volume=313 |issue=1 |pages=37–44 |year=2015 |pmid=25562264 |pmc=4426486 |doi=10.1001/jama.2014.16425 |url=}}</ref>
*==Screening==
 
===Acute complications===
They include [[diabetic ketoacidosis]] (DKA) and [[Hyperosmolar hyperglycemic state]] (HHS). DKA could be the presenting feature of type 1 diabetes and it is more common in type 1 diabetes although, it is sometimes seen in type 2 diabetic patients. [[Hyperosmolar hyperglycemic state|HHS]] is mostly seen in the elderly and it is more common in type 2 diabetes.
===Chronic complications===
====Macrovascular====
*[[Coronary heart disease]]<ref name="pmid18997199">{{cite journal |vauthors=Nicolucci A |title=Aspirin for primary prevention of cardiovascular events in diabetes: still an open question |journal=JAMA |volume=300 |issue=18 |pages=2180–1 |year=2008 |pmid=18997199 |doi=10.1001/jama.2008.625 |url=}}</ref>
*[[Peripheral arterial disease]]<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
*[[Cerebrovascular disease]]<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
 
===='''Microvascular'''====
=====Ophthalmic=====
*[[Retinopathy]] (nonproliferative/proliferative)<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
*[[Macular edema]]<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
 
=====Neuropathy=====
*[[Sensory neuropathy|Sensory]] and [[Motor neuron disease|motor]] (mono- and polyneuropathy)<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
*[[Autonomic neuropathy]]<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
=====Nephropathy=====
*[[Albuminuria]] and declining [[renal function]]<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>
 
===Other organs<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>===
*Gastrointestinal ([[gastroparesis]], [[diarrhea]])
*Genitourinary ([[uropathy]]/[[sexual dysfunction]])
*[[List of skin diseases|Dermatologic]]
*Infectious
*[[Cataract|Cataracts]]
*[[Glaucoma]]
*[[Periodontal disease]]
*[[Hearing loss]]
 
Complications of gestational diabetes differs from type 1 and type 2 diabetes primarily due to its pregnancy-specific effects on the mother as well as its effects on the fetus.
 
'''For more information on maternal complications of gestational diabetes [[Gestational diabetes maternal complications|click here]].'''
 
'''For more information on fetal complications of gestational diabetes [[Gestational diabetes fetal complications|click here]].'''
 
==Screening==
===Diabetes mellitus type 1===
According to the American Diabetic Association, screening for type 1 DM is not recommended.
===Diabetes mellitus type 2===
Diabetes screening is recommended for many people at various stages of life, and for those with any of several risk factors. American Diabetes Association Recommendations for Diabetes Screening include:<ref name="pmid27979889">{{cite journal |vauthors= |title=2. Classification and Diagnosis of Diabetes |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S11–S24 |year=2017 |pmid=27979889 |doi=10.2337/dc17-S005 |url=}}</ref><ref name="pmid19502545">{{cite journal |vauthors= |title=International Expert Committee report on the role of the A1C assay in the diagnosis of diabetes |journal=Diabetes Care |volume=32 |issue=7 |pages=1327–34 |year=2009 |pmid=19502545 |pmc=2699715 |doi=10.2337/dc09-9033 |url=}}</ref><ref name="pmid24126648">{{cite journal |vauthors=Schellenberg ES, Dryden DM, Vandermeer B, Ha C, Korownyk C |title=Lifestyle interventions for patients with and at risk for type 2 diabetes: a systematic review and meta-analysis |journal=Ann. Intern. Med. |volume=159 |issue=8 |pages=543–51 |year=2013 |pmid=24126648 |doi=10.7326/0003-4819-159-8-201310150-00007 |url=}}</ref><ref name="pmid22683134">{{cite journal |vauthors=Perreault L, Pan Q, Mather KJ, Watson KE, Hamman RF, Kahn SE |title=Effect of regression from prediabetes to normal glucose regulation on long-term reduction in diabetes risk: results from the Diabetes Prevention Program Outcomes Study |journal=Lancet |volume=379 |issue=9833 |pages=2243–51 |year=2012 |pmid=22683134 |pmc=3555407 |doi=10.1016/S0140-6736(12)60525-X |url=}}</ref>
* The general population should be screened every 3 years, beginning at age 45 (especially if their [[BMI]]>25kg/m2).
* Younger individuals should be screened if they have [[BMI]]>25kg/m2 and at least one of the following risk factors:
** Sedentary life style
** 1st degree relative with DM
** African American, Native American, Latino, Asian American, Pacific Islander
** Low [[HDL-C]]
** History of [[Gestational diabetes|gestational DM]]
** [[Polycystic ovary syndrome]]
** Vascular disease
 
To test for type 2 diabetes, [[fasting plasma glucose]], 2-h plasma glucose after 75-g oral glucose tolerance test, and [[HbA1C]] are equally appropriate.
===Gestational diabetes===
All pregnant women should be screened for gestational diabetes in 24-28 weeks with 50 gram glucose test. Measurements greater than 130 mg/dL are considered positive and should proceed to 100 gram glucose test for diagnosis. High risk mothers should be screened as early as the first prenatal visit. These risk factors include:<ref name="pmid26696675">{{cite journal |vauthors= |title=2. Classification and Diagnosis of Diabetes |journal=Diabetes Care |volume=39 Suppl 1 |issue= |pages=S13–22 |year=2016 |pmid=26696675 |doi=10.2337/dc16-S005 |url=}}</ref><ref name="pmid24424622">{{cite journal |vauthors=Moyer VA |title=Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement |journal=Ann. Intern. Med. |volume=160 |issue=6 |pages=414–20 |year=2014 |pmid=24424622 |doi=10.7326/M13-2905 |url=}}</ref>
* A [[Family history (medicine)|family history]] of diabetes especially in first degree relatives
* Maternal age >25 yrs
* Certain ethnic groups (such as Native American, Hispanic-American, African-American,  South or East Asian, Pacific Islander)
* [[Body mass index]] greater than 25 kg/m<sup>2</sup>
* Gestational diabetes or impaired glucose tolerance test in previous pregnancies
* Previous delivery of a baby >9 pounds
* Personal history of  [[impaired glucose tolerance]] or [[impared fasting glucose]] (pre-diabetes)
* [[Glycosuria]] at the first prenatal visit
* Certain medical conditions (such as [[metabolic syndrome]], [[polycystic ovary syndrome]] (PCOS), current use of [[glucocorticoids]], [[hypertension]])
* Previous history of unexplained [[miscarriage (patient information)|miscarriage]] or [[stillbirth]]
* Smoking doubles the risk of gestational diabetes
* [[Multiple gestation]]
* Genetic predisposition (.e.g. glucokinase mutation)
 
==Diagnosis==
==Diagnosis==
===Diabetes mellitus type 1 and type 2===
A [[fasting plasma glucose]] (FPG) <5.6 mmol/L (100 mg/dL), a [[plasma glucose]] <140 mg/dL (11.1 mmol/L) following an [[Oral glucose tolerance test|oral glucose challenge]] and an [[HbA1c]] <5.7% are considered normal.<br>
Diagnostic criteria for DM are:
*Symptoms of diabetes plus random blood glucose concentration ≥11.1 mmol/L (200 mg/dL)<sup>†</sup> '''OR'''
*[[Fasting plasma glucose]] ≥7.0 mmol/L (126 mg/dL)<sup>‡</sup> '''OR'''
*[[Hemoglobin A1c]] ≥ 6.5% '''OR'''
*2-h [[plasma glucose]] ≥11.1 mmol/L (200 mg/dL) during an [[oral glucose tolerance test]]<sup>¶</sup>
<br>Note:<br>
<small>
†:Random is defined as without regard to time since the last meal.
‡:Fasting is defined as no caloric intake for at least 8 h.
¶:The test should be performed using a glucose load containing the equivalent of 75 g anhydrous glucose dissolved in water, not recommended for routine clinical use.
</small>
==== American Diabetes Association Diabetes Diagnostic Criteria 2017 (DO NOT EDIT)<ref name="pmid27979887">{{cite journal |vauthors= |title=Standards of Medical Care in Diabetes-2017: Summary of Revisions |journal=Diabetes Care |volume=40 |issue=Suppl 1 |pages=S4–S5 |year=2017 |pmid=27979887 |doi=10.2337/dc17-S003 |url=}}</ref>====


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Revision as of 18:16, 18 July 2017

This page contains general information about Congenital adrenal hyperplasia. For more information on specific types, please visit the pages on 21-hydroxylase deficiency, 17a-Hydroxylase deficiency, 11β-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase, Cytochrome P450-oxidoreductase (POR) deficiency (ORD), congenital lipoid adrenal hyperplasia, cholesterol side-chain cleavage enzyme deficiency .


Congenital adrenal hyperplasia main page

Overview

Classification

21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia

Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Synonyms and keywords: Congenital adrenal hyperplasia, CAH, Adrenal hyperplasia

Overview

Classification

Congenital adrenal hyperplasia is classified into seven types based on the genetic causes that lead to hyperplasia and hormonal imbalance.

Disease History and symptoms Laboratory findings Additional findings
Blood pressure Genitalia
21-hydroxylase deficiency Classic type
  • Low in salt-wasting
  • Normal in non-salt-wasting
  • Female: ambiguous
  • Male: normal or scrotal pigmentation and large phallus
Non-classic type
  • Normal
  • Female: virilization after puberty
  • Male: normal appearance
17a-Hydroxylase deficiency
11β-hydroxylase deficiency
3-beta-hydroxysteroid dehydrogenase
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Congenital lipoid adrenal hyperplasia
Cholesterol side-chain cleavage enzyme deficiency

Complications

  • ==Screening==

Diagnosis

Criteria for the diagnosis of diabetes
FPG ≥126 mg/dL (7.0 mmol/L). Fasting is defined as no caloric intake for at least 8 h.
OR
2-h Plasma Glucose (PG) ≥200 mg/dL (11.1 mmol/L) during an OGTT. The test should be performed as described

by the WHO, using a glucose load containing the equivalent of 75 g anhydrous glucose dissolved in water.

OR
A1C ≥6.5% (48 mmol/mol).
OR
In a patient with classic symptoms of hyperglycemia or hyperglycemic crisis, a random plasma glucose ≥200 mg/dL (11.1 mmol/L).

Gestational diabetes

There are 2 strategies to confirm the GDM diagnosis.

  • One-step 75-g Oral glucose tolerance test (OGTT)
OR
  • Two-step approach with a 50-g (nonfasting) screen followed by a 100-g OGTT for those who screen positive.[1]

One Step Strategy=

Perform a 75 g glucose tolerance test in 24-28 weeks of pregnancy and read the measures 1 h and 2 h after glucose ingestion as well as fasting glucose.[1] The OGTT should be performed in the morning after an overnight fast of at least 8 h. The diagnosis of GDM is made when any of the following plasma glucose values are met or exceeded:

  • Fasting: 92 mg/dL (5.1 mmol/L)
  • 1 h: 180 mg/dL (10.0 mmol/L)
  • 2 h: 153 mg/dL (8.5 mmol/L)

Two Step Strategy

In this approach, screening with a 1 h 50-g glucose load test (GLT) followed by a 3 h 100-g OGTT for those who screen positive.[2]

The diagnosis of GDM is made when at least 2 out of 4 measures of 3 h 100-g OGTT became abnormal.

  • The following table summarizes the diagnostic approach for gestational diabetes.
Cut off (mg/dl)
Fasting 1 Hour 2 Hour 3 Hour
One step test
2 hour 75 g glucose tolerance test
92 180 153 ----
Two step test
1 hour 50 g screening test
---- 140 ---- ----
3 hour 100 g test if screening test became positive
Carpenter/Coustan approach[3]
95 180 155 140
National Diabetes Data Group (NDDG) approach[4]
105 190 165 145

Prevention

Life style modification is the mainstay of prevention of diabetes mellitus. It includes, changes in diet, weight reduction and exercise. The strongest evidence for diabetes prevention comes from the Diabetes Prevention Program (DPP). The DPP demonstrated that an intensive lifestyle intervention could reduce the incidence of type 2 diabetes by 58% over 3 years.[5]

References

  1. 1.0 1.1 "Standards of Medical Care in Diabetes-2016 Abridged for Primary Care Providers". Clin Diabetes. 34 (1): 3–21. 2016. doi:10.2337/diaclin.34.1.3. PMID 26807004.
  2. "Professional Practice Committee for the Standards of Medical Care in Diabetes-2016". Diabetes Care. 39 Suppl 1: S107–8. 2016. doi:10.2337/dc16-S018. PMID 26696673.
  3. Carpenter MW, Coustan DR (1982). "Criteria for screening tests for gestational diabetes". Am. J. Obstet. Gynecol. 144 (7): 768–73. PMID 7148898.
  4. "Classification and diagnosis of diabetes mellitus and other categories of glucose intolerance. National Diabetes Data Group". Diabetes. 28 (12): 1039–57. 1979. PMID 510803.
  5. Lindström J, Ilanne-Parikka P, Peltonen M, Aunola S, Eriksson JG, Hemiö K, Hämäläinen H, Härkönen P, Keinänen-Kiukaanniemi S, Laakso M, Louheranta A, Mannelin M, Paturi M, Sundvall J, Valle TT, Uusitupa M, Tuomilehto J (2006). "Sustained reduction in the incidence of type 2 diabetes by lifestyle intervention: follow-up of the Finnish Diabetes Prevention Study". Lancet. 368 (9548): 1673–9. doi:10.1016/S0140-6736(06)69701-8. PMID 17098085.