Congenital isolated ACTH deficiency

Malpuech G et al. (1988) Isolated familial adrenocorticotropin deficiency: prenatal diagnosis by maternal plasma estriol assay.

Lamolet B et al. (2001) A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.

Vallette-Kasic S et al. (2005) Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations.

Couture C et al. (2012) Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

Lücking T et al. (1975) [Selective ACTH deficiency in two siblings (author's transl)].

Aynsley-Green A et al. (1978) Isolated ACTH deficiency. Metabolic and endocrine studies in a 7-year-old boy.

Hung W et al. (1968) Hypoglycemia in a two-year-old boy with adrenocorticotropic hormone (ACTH) deficiency (probably isolated) and adrenal medullary unresponsiveness to insulin-induced hypoglycemia.

Ichiba Y et al. (1983) Isolated corticotropin deficiency.

Nussey SS et al. (1993) Isolated congenital ACTH deficiency: a cleavage enzyme defect?

Funder JW et al. (1993) Isolated ACTH deficiency: enzyme defect or chimaeric enzyme?

Kyllo JH et al. (1996) Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms.

ODELL WD et al. (1960) Hypoadrenotropism: the isolated deficiency of adrenotropic hormone.