LILACS – Literatura Latinoamericana y del Caribe de Ciencias de la Salud

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

SUMMARY We present the unique case of an adult Brazilian woman with severe short stature due to growth hormone deficiency with a heterozygous G to T substitution in the donor splice site of intron 3 of the growth hormone 1 (GH1) gene (c.291+1G>T). In this autosomal dominant form of growth hormone defi...

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

Correa, Fernanda A; França, Marcela M; Fang, Qing; Ma, Qianyi; Bachega, Tania A; Rodrigues, Andresa; Ozel, Bilge A; Li, Jun Z; Mendonca, Berenice B; Jorge, Alexander A L; Carvalho, Luciani R; Camper, Sally A; Arnhold, Ivo J P.

Arch. endocrinol. metab. (Online); 61 (6), 2017

SUMMARY Isolated growth hormone deficiency (IGHD) is the most common pituitary hormone deficiency and, clinically, patients have delayed bone age. High sequence similarity between CYP21A2 gene and CYP21A1P pseudogene poses difficulties for exome sequencing interpretation. A 7.5 year-old boy born to secon...

Hiperplasia Suprarrenal Congénita/complicaciones, Hiperplasia Suprarrenal Congénita/genética, Enfermedades del Desarrollo Óseo/etiología, Enfermedades del Desarrollo Óseo/genética, Consanguinidad, Enanismo Hipofisario/complicaciones, Enanismo Hipofisario/genética, Mutación, Linaje, Fenotipo, Receptores de Neuropéptido/genética, Receptores de Hormona Reguladora de Hormona Hipofisaria/genética, Esteroide 21-Hidroxilasa/genética

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