Partial Deletion of the <i>NR5A1 (SF1)</i> Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development

M. Barbaro; M. Cools; L.H.J. Looijenga; S.L.S. Drop; A. Wedell

doi:10.1159/000328821

Partial Deletion of the NR5A1 (SF1) Gene Detected by Synthetic Probe MLPA in a Patient with XY Gonadal Disorder of Sex Development

Sexual Development ◽

10.1159/000328821 ◽

2011 ◽

Vol 5 (4) ◽

pp. 181-187 ◽

Cited By ~ 20

Author(s):

M. Barbaro ◽

M. Cools ◽

L.H.J. Looijenga ◽

S.L.S. Drop ◽

A. Wedell

Keyword(s):

Partial Deletion ◽

Disorder Of Sex Development ◽

Sex Development ◽

Synthetic Probe ◽

I Gene

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A Rare Etiology of 46, XY Disorder of Sex Development and Adrenal Insufficiency: A case of MIRAGE syndrome caused by mutations in SAMD9 gene

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.galenos.2019.0053 ◽

2019 ◽

Vol 0 (0) ◽

pp. 0-0

Author(s):

Eda Mengen ◽

Aynur Kucukcongar Yavas

Keyword(s):

Adrenal Insufficiency ◽

Disorder Of Sex Development ◽

Sex Development ◽

I Gene

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A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

Journal of Clinical Research in Pediatric Endocrinology ◽

10.4274/jcrpe.galenos.2019.2019.0053 ◽

2020 ◽

Vol 12 (2) ◽

pp. 206-211 ◽

Cited By ~ 1

Author(s):

Eda Mengen ◽

Aynur Küçükçongar Yavaş ◽

S. Ahmet Uçaktürk

Keyword(s):

Adrenal Insufficiency ◽

Disorder Of Sex Development ◽

Sex Development ◽

I Gene

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Cytogenetic and molecular diagnosis of Fanconi anemia revealed two hidden phenotypes: Disorder of sex development and cerebro‐oculo‐facio‐skeletal syndrome

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.694 ◽

2019 ◽

Vol 7 (7) ◽

Author(s):

Abir Ben Haj Ali ◽

Ahlem Amouri ◽

Marwa Sayeb ◽

Saloua Makni ◽

Wajih Hammami ◽

...

Keyword(s):

Molecular Diagnosis ◽

Fanconi Anemia ◽

Disorder Of Sex Development ◽

Sex Development

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Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021)

Clinical Endocrinology ◽

10.1111/cen.14528 ◽

2021 ◽

Author(s):

SF Ahmed ◽

JC Achermann ◽

J Alderson ◽

NS Crouch ◽

S Elford ◽

...

Keyword(s):

Initial Evaluation ◽

Disorder Of Sex Development ◽

Sex Development

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Very late presentation of a disorder of sex development

Andrologia ◽

10.1111/and.12831 ◽

2017 ◽

Vol 49 (10) ◽

pp. e12831 ◽

Cited By ~ 2

Author(s):

J. M. Martins ◽

M. Fraga ◽

J. Miguens ◽

F. Tortosa ◽

B. Marques ◽

...

Keyword(s):

Late Presentation ◽

Disorder Of Sex Development ◽

Sex Development

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Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

Systems Biology in Reproductive Medicine ◽

10.3109/19396368.2012.731624 ◽

2012 ◽

Vol 59 (1) ◽

pp. 42-47 ◽

Cited By ~ 12

Author(s):

Sezgin Gunes ◽

Ramazan Asci ◽

Gülsen Okten ◽

Fatih Atac ◽

Onur E. Onat ◽

...

Keyword(s):

Disorder Of Sex Development ◽

Sex Development

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Exome sequencing for the patients with SRY-negative 46,XX testicular disorder of sex development

European Journal of Obstetrics & Gynecology and Reproductive Biology ◽

10.1016/j.ejogrb.2021.03.024 ◽

2021 ◽

Author(s):

Ji Won Kim ◽

Seung-Hun Song ◽

Se Ra Sung ◽

Sung Han Shim

Keyword(s):

Exome Sequencing ◽

Disorder Of Sex Development ◽

Sex Development

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Psychological Problem in Pediatric Disorder of Sex Development Patient and Relatives

Open Access Indonesian Journal of Medical Reviews ◽

10.37275/oaijmr.v1i2.552 ◽

2021 ◽

Vol 1 (2) ◽

pp. 24-27

Author(s):

Erlangga Danu Saputro

Keyword(s):

Sexual Development ◽

Psychosocial Problems ◽

Psychological Problem ◽

Systematic Search ◽

Basic Data ◽

Disorder Of Sex Development ◽

Sex Development ◽

Disorder Of Sexual Development ◽

Counselling Program

Disorder of sexual development (DSD) is one of challenging disorder that has to be done clinically and physiologically. The patients and relatives may experience various psychosocial problems that have an impact on their live. The aim of this study is to look at psychological problem in children with DSD and their relatives. A systematic search was conducted in PubMed for articles representing information on psychological problem to the patient and their relatives. Relevant data were extracted and narratively reviewed. The result of this review can be used as basic data in the development of counselling program for the patients and their relatives.

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