17 alpha-hydroxylase deficiency differential diagnosis: Difference between revisions

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==Differentiating 17 alpha-hydroxylase deficiency from other Diseases==
==Differentiating 17 alpha-hydroxylase deficiency from other Diseases==
17 alpha-hydroxylase deficiency must be differentiated from diseases with [[primary amenorrhea]] and female [[external genitalia]]. Some of these causes include [[Pregnancy]], [[androgen insensitivity syndrome]], 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency,  gonadal dysgenesis, [[testicular regression syndrome]],  [[LH receptor|LH receptor defects]], [[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]], [[mullerian agenesis]], [[Ovarian insufficiency|primary ovarian insufficiency]], [[hypogonadotropic hypogonadism]] and [[turner syndrome]].<ref name="pmid21147889">{{cite journal |vauthors=Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C |title=Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=2 |pages=296–307 |year=2011 |pmid=21147889 |doi=10.1210/jc.2010-1024 |url=}}</ref>
17 alpha-hydroxylase deficiency must be differentiated from diseases with [[primary amenorrhea]] and female [[external genitalia]]. Some of these causes include [[Pregnancy]], [[androgen insensitivity syndrome]], 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency,  gonadal dysgenesis, [[testicular regression syndrome]],  [[LH receptor|LH receptor defects]], [[5-alpha-reductase deficiency|5-alpha-reductase type 2 deficiency]], [[mullerian agenesis]], [[Ovarian insufficiency|primary ovarian insufficiency]], [[hypogonadotropic hypogonadism]] and [[turner syndrome]].<ref name="pmid21147889">{{cite journal |vauthors=Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C |title=Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients |journal=J. Clin. Endocrinol. Metab. |volume=96 |issue=2 |pages=296–307 |year=2011 |pmid=21147889 |doi=10.1210/jc.2010-1024 |url=}}</ref><ref name="pmid2164530">{{cite journal |vauthors=Moreira AC, Leal AM, Castro M |title=Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency |journal=J. Clin. Endocrinol. Metab. |volume=71 |issue=1 |pages=86–91 |year=1990 |pmid=2164530 |doi=10.1210/jcem-71-1-86 |url=}}</ref><ref name="pmid999330">{{cite journal |vauthors=Heremans GF, Moolenaar AJ, van Gelderen HH |title=Female phenotype in a male child due to 17-alpha-hydroxylase deficiency |journal=Arch. Dis. Child. |volume=51 |issue=9 |pages=721–3 |year=1976 |pmid=999330 |pmc=1546244 |doi= |url=}}</ref><ref name="pmid226795">{{cite journal |vauthors=Biglieri EG |title=Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome |journal=J. Steroid Biochem. |volume=11 |issue=1B |pages=653–7 |year=1979 |pmid=226795 |doi= |url=}}</ref><ref name="pmid8929268">{{cite journal |vauthors=Saenger P |title=Turner's syndrome |journal=N. Engl. J. Med. |volume=335 |issue=23 |pages=1749–54 |year=1996 |pmid=8929268 |doi=10.1056/NEJM199612053352307 |url=}}</ref><ref name="pmid25813279">{{cite journal |vauthors=Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R |title=Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis |journal=Fertil. Steril. |volume=103 |issue=5 |pages=1297–304 |year=2015 |pmid=25813279 |doi=10.1016/j.fertnstert.2015.01.043 |url=}}</ref><ref name="pmid4432067">{{cite journal |vauthors=Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE |title=Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism |journal=Science |volume=186 |issue=4170 |pages=1213–5 |year=1974 |pmid=4432067 |doi= |url=}}</ref><ref name="pmid11344932">{{cite journal |vauthors=Schnitzer JJ, Donahoe PK |title=Surgical treatment of congenital adrenal hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=30 |issue=1 |pages=137–54 |year=2001 |pmid=11344932 |doi= |url=}}</ref>
 


{| class="wikitable"  
{| class="wikitable"  
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|High
|High
|[[Turner syndrome|45 XO]]
|[[Turner syndrome|45 XO]]
|}  
|}
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 13:18, 8 August 2017

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

Overview

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.

Differentiating 17 alpha-hydroxylase deficiency from other Diseases

17 alpha-hydroxylase deficiency must be differentiated from diseases with primary amenorrhea and female external genitalia. Some of these causes include Pregnancy, androgen insensitivity syndrome, 3beta-hydroxysteroid dehydrogenase type 2 deficiency, 17-alpha-hydroxylase deficiency, gonadal dysgenesis, testicular regression syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome.[1][2][3][4][5][6][7][8]


Disease name Cause Differentiating
Findings Uterus Breast development Testosterone LH FSH Karyotyping
Pregnancy HCG positive
3-beta-hydroxysteroid dehydrogenase type 2 deficiency Yes in female Yes in female Low Normal Normal XY and XX
17-alpha-hydroxylase deficiency No No Low Normal Normal XY
Gonadal dysgenesis
  • Mutations in SRY, FOG2/ZFPM2, and WNT1
Yes Yes Low High High XY
Testicular regression syndrome
  • Loss of testicular function and tissue early in development
No No Low High High XY
LH receptor defects No No Low High High XY
5-alpha-reductase type 2 deficiency No No Normal male range High to normal High to normal XY
Androgen insensitivity syndrome  No Yes Normal male range Normal Normal XY
Mullerian agenesis No Yes Normal female range Normal Normal XX
Primary ovarian insufficiency Yes Yes Normal female range High High XX
Hypogonadotropic hypogonadism
  • Functional, sellar masses
Yes No Normal female range Low Normal XX
Turner syndrome
  • Chromosomal
Yes Yes Normal female range High High 45 XO

References

  1. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, Cartigny M, Pienkowski C, Polak M, Skordis N, Mazen I, Ocal G, Berberoglu M, Reynaud R, Baumann C, Cabrol S, Simon D, Kayemba-Kay's K, De Kerdanet M, Kurtz F, Leheup B, Heinrichs C, Tenoutasse S, Van Vliet G, Grüters A, Eunice M, Ammini AC, Hafez M, Hochberg Z, Einaudi S, Al Mawlawi H, Nuñez CJ, Servant N, Lumbroso S, Paris F, Sultan C (2011). "Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients". J. Clin. Endocrinol. Metab. 96 (2): 296–307. doi:10.1210/jc.2010-1024. PMID 21147889.
  2. Moreira AC, Leal AM, Castro M (1990). "Characterization of adrenocorticotropin secretion in a patient with 17 alpha-hydroxylase deficiency". J. Clin. Endocrinol. Metab. 71 (1): 86–91. doi:10.1210/jcem-71-1-86. PMID 2164530.
  3. Heremans GF, Moolenaar AJ, van Gelderen HH (1976). "Female phenotype in a male child due to 17-alpha-hydroxylase deficiency". Arch. Dis. Child. 51 (9): 721–3. PMC 1546244. PMID 999330.
  4. Biglieri EG (1979). "Mechanisms establishing the mineralocorticoid hormone patterns in the 17 alpha-hydroxylase deficiency syndrome". J. Steroid Biochem. 11 (1B): 653–7. PMID 226795.
  5. Saenger P (1996). "Turner's syndrome". N. Engl. J. Med. 335 (23): 1749–54. doi:10.1056/NEJM199612053352307. PMID 8929268.
  6. Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R (2015). "Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis". Fertil. Steril. 103 (5): 1297–304. doi:10.1016/j.fertnstert.2015.01.043. PMID 25813279.
  7. Imperato-McGinley J, Guerrero L, Gautier T, Peterson RE (1974). "Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism". Science. 186 (4170): 1213–5. PMID 4432067.
  8. Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol. Metab. Clin. North Am. 30 (1): 137–54. PMID 11344932.