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Case ReportCase Report
Open Access

Adrenal hypoplasia congenita in identical twins

Alia M. Al Amer, Khloud M. Al Rubaya and Ali S. Alzahrani
Saudi Medical Journal January 2019, 40 (1) 87-92; DOI: https://doi.org/10.15537/smj.2019.1.23337
Alia M. Al Amer
From the Unit of Pediatric Endocrinology and Diabetes (Al Amer, Al Rubaya), Maternity and Children Hospital, Dammam, and from the Department of Medicine (Alzahrani), King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
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Khloud M. Al Rubaya
From the Unit of Pediatric Endocrinology and Diabetes (Al Amer, Al Rubaya), Maternity and Children Hospital, Dammam, and from the Department of Medicine (Alzahrani), King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
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Ali S. Alzahrani
From the Unit of Pediatric Endocrinology and Diabetes (Al Amer, Al Rubaya), Maternity and Children Hospital, Dammam, and from the Department of Medicine (Alzahrani), King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia
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References

  1. ↵
    1. Yang F,
    2. Hanaki K,
    3. Kinoshita T,
    4. Kawashima Y,
    5. Nagaishi J,
    6. Kanzaki S
    (2009) Late-onset adrenal hypoplasia congenita caused by a novel mutation of the DAX-1 gene. Eur J Pediatr 168:329–331.
    OpenUrlPubMed
  2. ↵
    1. Khadilkar V,
    2. Mangtani HR,
    3. Jahagirdar RR,
    4. Khatod KA,
    5. Phadke ND,
    6. Deepa PS,
    7. et al.
    (2013) Entire DAX1 gene deletion in an Indian boy with adrenal hypoplasia congenita. The Indian Journal of Pediatrics 80:631–635.
    OpenUrl
  3. ↵
    1. Darcan S,
    2. Goksen D,
    3. Ozen S,
    4. Ozkinay F,
    5. Durmaz B,
    6. Lalli E
    (2011) Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation. Horm Res Paediatr 75:153–156.
    OpenUrlPubMed
  4. ↵
    1. Xu XQ,
    2. Feng YY,
    3. Yuan WX,
    4. Huang K,
    5. Liang L,
    6. Fu JF
    (2013) Novel mutations in DAX1 of X-linked adrenal hypoplasia congenita over several generations in one family. Endocr Pract 19:e105–e111.
    OpenUrl
  5. ↵
    1. Ahmad I,
    2. Paterson WF,
    3. Lin L,
    4. Adlard P,
    5. Duncan P,
    6. Tolmie J,
    7. et al.
    (2007) A novel missense mutation in DAX-1 with an unusual presentation of X-linked adrenal hypoplasia congenita. Horm Res 68:32–37.
    OpenUrlPubMedWeb of Science
  6. ↵
    1. Rojek A,
    2. Flader M,
    3. Malecka E,
    4. Niedziela M
    (2014) A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia. Hormones (Athens) 13:413–419.
    OpenUrl
  7. ↵
    1. Goto M,
    2. Katsumata N
    (2009) X-linked adrenal hypoplasia congenita caused by a novel intronic mutation of the DAX-1 gene. Horm Res 71:120–124.
    OpenUrlCrossRefPubMedWeb of Science
  8. ↵
    1. Calliari LE,
    2. Longui CA,
    3. Rocha MN,
    4. Faria CD,
    5. Kochi C,
    6. Melo MR,
    7. et al.
    (2007) A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita. Genet Mol Res 6:277–283.
    OpenUrlPubMed
  9. ↵
    1. Laissue L,
    2. Copelli S,
    3. Bergada I,
    4. Bergada C,
    5. Barrio G,
    6. Karaboga S,
    7. et al.
    (2006) Partial defects in transcriptional activity of two novel DAX?1 mutations in childhood?onset adrenal hypoplasia congenita. Clinical Endocrinology 65:681–686.
    OpenUrlCrossRefPubMed
  10. ↵
    1. Ozer EA,
    2. Kaya A,
    3. Yildirimer M,
    4. Guler O,
    5. Can S,
    6. Aydinlioglu H
    (2009) A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita. Eur J. Pediatr 168:367–369.
    OpenUrlPubMed
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Saudi Medical Journal: 40 (1)
Saudi Medical Journal
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Adrenal hypoplasia congenita in identical twins
Alia M. Al Amer, Khloud M. Al Rubaya, Ali S. Alzahrani
Saudi Medical Journal Jan 2019, 40 (1) 87-92; DOI: 10.15537/smj.2019.1.23337

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Adrenal hypoplasia congenita in identical twins
Alia M. Al Amer, Khloud M. Al Rubaya, Ali S. Alzahrani
Saudi Medical Journal Jan 2019, 40 (1) 87-92; DOI: 10.15537/smj.2019.1.23337
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