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F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism .[citation needed ]
Types
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A variety of conditions of abnormal steroidogenesis exist due to genetic mutations in the steroidogenic enzymes involved in the process, of which include:
Generalized
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Androgen- and estrogen-specific
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Glucocorticoid- and mineralocorticoid-specific
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Miscellaneous
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In addition, several conditions of abnormal steroidogenesis due to genetic mutations in receptors , as opposed to enzymes, also exist, including:[citation needed ]
No activating mutations of the GnRH receptor in humans have been described in the medical literature ,[3] and only one of the FSH receptor has been described, which presented as asymptomatic.[4] [5]
See also
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Disorders of sex development
Congenital adrenal hyperplasia
Adrenal insufficiency
Hypogonadism (hypoandrogenism and hypoestrogenism )
Hypergonadism (hyperandrogenism and hyperestrogenism )
Delayed puberty and precocious puberty
Intersex
Steroid hormone
Corticosteroid (glucocorticoid , mineralocorticoid )
Sex steroid (androgen , estrogen , and progestogen )
Neuroactive steroid
Hypothalamus and pituitary gland
Adrenal cortex and gonad (testicle and ovary )
HPA axis and HPG axis
References
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^ Parween, Shaheena; Fernández-Cancio, Mónica; Benito-Sanz, Sara; Camats, Núria; Rojas Velazquez, Maria Natalia; López-Siguero, Juan-Pedro; Udhane, Sameer S; Kagawa, Norio; Flück, Christa E; Audí, Laura; Pandey, Amit V (April 2020). "Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype" . The Journal of Clinical Endocrinology & Metabolism . 105 (4 ): e1272–e1290. doi :10.1210/clinem/dgaa076 . PMID 32060549 .
^ Fernández-Cancio, Mónica; Camats, Núria; Flück, Christa E.; Zalewski, Adam; Dick, Bernhard; Frey, Brigitte M.; Monné, Raquel; Torán, Núria; Audí, Laura (2018-04-29). "Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency" . Pharmaceuticals . 11 (2 ): 37. doi :10.3390/ph11020037 . PMC 6027421 . PMID 29710837 .
^ Karges B, Karges W, de Roux N (2003). "Clinical and molecular genetics of the human GnRH receptor" . Human Reproduction Update . 9 (6 ): 523–30. doi :10.1093/humupd/dmg040 . PMID 14714589 .
^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (3 December 2009). Andrology: Male Reproductive Health and Dysfunction . Springer. p. 226. ISBN 978-3-540-78354-1 . Retrieved 11 June 2012 .
^ Mark A. Sperling (25 April 2008). Pediatric Endocrinology E-Book . Elsevier Health Sciences. p. 35. ISBN 978-1-4377-1109-7 . Retrieved 11 June 2012 .
Further reading
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External links
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R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Inborn_errors_of_steroid_metabolism&oldid=1220458879 "
C a t e g o r i e s :
● A d r e n a l g l a n d d i s o r d e r s
● C h o l e s t e r o l a n d s t e r o i d m e t a b o l i s m d i s o r d e r s
● E n d o c r i n e g o n a d d i s o r d e r s
● G e n e t i c d i s e a s e s a n d d i s o r d e r s
● R a r e d i s e a s e s
H i d d e n c a t e g o r i e s :
● A r t i c l e s w i t h s h o r t d e s c r i p t i o n
● S h o r t d e s c r i p t i o n i s d i f f e r e n t f r o m W i k i d a t a
● A l l a r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s
● A r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s f r o m A u g u s t 2 0 2 0
● A r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s f r o m O c t o b e r 2 0 2 1
● A l l a r t i c l e s w i t h d e a d e x t e r n a l l i n k s
● A r t i c l e s w i t h d e a d e x t e r n a l l i n k s f r o m M a r c h 2 0 2 4
● A r t i c l e s w i t h p e r m a n e n t l y d e a d e x t e r n a l l i n k s
● T h i s p a g e w a s l a s t e d i t e d o n 2 3 A p r i l 2 0 2 4 , a t 2 2 : 0 8 ( U T C ) .
● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n .
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