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Article

Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology - 1 Dec 2006

Georgopoulos Neoklis A, Katsikis Ilias, Giamalis Petros, Koika Vasiliki, Adonakis George, Kourtis Anargyros, Kourounis George, Panidis Dimitrios

Abstract excerpt

Combined pituitary hormone deficiency (CPHD) is a rare disorder resulting from an impaired pituitary function due to different causes, characterized by impaired secretion of growth hormone (GH) and one or more of the other anterior pituitary hormones. To date, 16 distinct human Prophet of Pit-1 (Prop1) gene mutations have been identified in patients with CPHD, inducing a phenotype involving GH,...

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PMID: 17162714
DOI: 10.1080/09513590601030290

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation.PMID 17162714Read ↗

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Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay.Semantic proximity Read ↗

Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.Semantic proximity Read ↗

Impaired Adrenocorticotropin-Adrenal Axis in Combined Pituitary Hormone Deficiency Caused by a Two-Base Pair Deletion (301–302delAG) in the Prophet of Pit-1 Gene<sup>1</sup>Semantic proximity Read ↗

The natural history of the R120C PROP1 mutation reveals a wide phenotypic variability in two untreated adult brothers with combined pituitary hormone deficiency.Semantic proximity Read ↗

Combined pituitary hormone deficiency: role of Pit-1 and Prop-1.Semantic proximity Read ↗

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Clinical characteristics of a pediatric cohort of patients with combined pituitary insufficiency caused by mutations of the PROP1 geneSemantic proximity Read ↗

Adrenocorticotropin deficiency in combined pituitary hormone deficiency patients homozygous for a novel PROP1 deletion.Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

The spectrum of hypopituitarism caused by PROP1 mutations.Semantic proximity Read ↗

Central hypocortisolism as part of combined pituitary hormone deficiency due to mutations of PROP-1 gene.Semantic proximity Read ↗

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