Combined pituitary hormone deficiency

Definition:

Combined pituitary hormone deficiency (CPHD) is a rare disorder that is characterized by the impaired production of growth hormone (GH) and one or more other pituitary hormones. Currently reported genes include PROP1, POU1F1, HESX1, LHX3, LHX4, and OTX2. Mutations of these transcription factor genes cause a wide range of pituitary phenotypes, from severe life-threatening CPHD to isolated GH deficiency.

References:

[1]. Daniel Diaczok, et al. A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2008 Nov;93(11):4351-9. [Content Brief]

[2]. Eline A Verberne, et al. Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. Am J Med Genet A. 2020 Aug;182(8):1952-1956. [Content Brief]

[3]. Francesca De Rienzo, et al. Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort. Clin Endocrinol (Oxf). 2015 Dec;83(6):849-60. [Content Brief]

[4]. James P G Turton, et al. Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency. J Clin Endocrinol Metab. 2005 Aug;90(8):4762-70. [Content Brief]

[5]. K Machinis, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001 Nov;69(5):961-8. [Content Brief]

[6]. P Q Thomas, et al. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Hum Mol Genet. 2001 Jan 1;10(1):39-45. [Content Brief]

[7]. Roland W Pfaeffle, et al. Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation. J Clin Endocrinol Metab. 2007 May;92(5):1909-19. [Content Brief]

[8]. S Vallette-Kasic, et al. PROP1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab. 2001 Sep;86(9):4529-35. [Content Brief]

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