The first clinical presentation of disorders of sex development 46 XY due to mutation in steroidogenic factor 1 (SF1) in Russian literature

Kalinchenko N.Iu.; Anosova T.A.; Ioutsi V.A.; Tiul'pakov A.N.

doi:https://doi.org/10.14341/probl20166215-59

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Anosova T.A.

Moscow Pediatric clinic №125, Moscow, Russia

Ioutsi V.A.

Endocrinology Research Centre, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

The first clinical presentation of disorders of sex development 46 XY due to mutation in steroidogenic factor 1 (SF1) in Russian literature

Authors:

Kalinchenko N.Iu., Anosova T.A., Ioutsi V.A., Tiul'pakov A.N.

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Journal: Problems of Endocrinology. 2016;62(1): 55‑59

DOI: 10.14341/probl20166215-59

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Kalinchenko NIu, Anosova TA, Ioutsi VA, Tiul'pakov AN. The first clinical presentation of disorders of sex development 46 XY due to mutation in steroidogenic factor 1 (SF1) in Russian literature. Problems of Endocrinology. 2016;62(1):55‑59. (In Russ.)
https://doi.org/10.14341/probl20166215-59

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Abstract:

Steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a nuclear receptor transcription factor that plays a critical role in different processes of sex development. s in SF1 result in adrenal failure and complete testicular disgenesis in 46,XY individuals. According to recent studies s in SF1 are associated with milder phenotype: they are found in children with 46,XY disorders of sex development (DSD) but with apparently normal adrenal structure and function. Here we present for the first time in Russian literature a case of SF1 deficiency. of NR5A1 gene revealed a novel c.951delC p.H317QfsX17. This clinical case molecular genetic studies in DSD 46,XY, especially severe forms.

Keywords:

steroidogenic factor-1 (SF1)

NR5A1

disorders of sex development (DSD),

Authors:

Kalinchenko N.Iu.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

Anosova T.A.

Moscow Pediatric clinic №125, Moscow, Russia

Ioutsi V.A.

Endocrinology Research Centre, Moscow, Russia

Tiul'pakov A.N.

Éndokrinologicheskiĭ nauchnyĭ tsentr, Moskva

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References:

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