Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation.

Eltan, Mehmet; Yavas Abali, Zehra; Arslan Ates, Esra; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Türkyilmaz, Ayberk; Bereket, Abdullah; Turan, Serap; Guran, Tulay

Eltan, Mehmet; Yavas Abali, Zehra; Arslan Ates, Esra; Kirkgoz, Tarik; Kaygusuz, Sare Betul; Türkyilmaz, Ayberk; Bereket, Abdullah; Turan, Serap; Guran, Tulay.

Afiliación

Eltan M; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
Yavas Abali Z; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey, zehra_yavas@yahoo.com.
Arslan Ates E; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.
Kirkgoz T; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
Kaygusuz SB; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
Türkyilmaz A; Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.
Bereket A; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
Turan S; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.
Guran T; Department of Pediatric Endocrinology and Diabetes, Marmara University School of Medicine, Istanbul, Turkey.

Horm Res Paediatr ; 92(4): 262-268, 2019.

Article en En | MEDLINE | ID: mdl-31461705

Asunto(s)

Trastornos del Crecimiento/sangre; Complejos Multienzimáticos/genética; Mutación; Pubertad Precoz/sangre; Sulfato Adenililtransferasa/genética; Sulfato de Deshidroepiandrosterona/sangre; Femenino; Trastornos del Crecimiento/genética; Humanos; Pubertad Precoz/genética

Palabras clave

Autosomal recessive brachyolmia; PAPSS2; Premature pubarche; SULT2A1; Spondyloepimetaphyseal dysplasia

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Pubertad Precoz / Sulfato Adenililtransferasa / Trastornos del Crecimiento / Complejos Multienzimáticos / Mutación Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Revista: Horm Res Paediatr Asunto de la revista: ENDOCRINOLOGIA / PEDIATRIA Año: 2019 Tipo del documento: Article País de afiliación: Turquía

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