Growth hormone deficiency

Definition:

Growth hormone deficiency, formerly known as Pituitary dwarfism, is a heterogeneous condition characterized by growth retardation with short stature and normal body proportions caused by growth hormone deficiency.

References:

[1]. A M Procter, et al. The molecular genetics of growth hormone deficiency. Hum Genet. 1998 Sep;103(3):255-72. [Content Brief]

[2]. Frédéric Laumonnier, et al. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet. 2002 Dec;71(6):1450-5. [Content Brief]

[3]. Jacques Pantel, et al. Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature. J Clin Invest. 2006 Mar;116(3):760-8. [Content Brief]

[4]. L A Pérez Jurado, et al. Molecular basis of familial growth hormone deficiency. Horm Res. 1994;42(4-5):189-97. [Content Brief]

[5]. Libia M Hernández, et al. Isolated growth hormone deficiency. Pituitary. 2007;10(4):351-7. [Content Brief]

[6]. Primus E Mullis, et al. Genetics of growth hormone deficiency. Endocrinol Metab Clin North Am. 2007 Mar;36(1):17-36. [Content Brief]

[7]. Yoshsitaka Hayashi, et al. Familial isolated growth hormone deficiency: genetics and pathophysiology. Endocr J. 2002 Jun;49(3):265-72. [Content Brief]

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