Pituitary hormone deficiency, combined 1

Common Name(s)

Pituitary hormone deficiency, combined 1

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH; {139250}) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL; {176760}), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH; {152780}), and follicle-stimulating hormone (FSH; {136530}) are preserved ({23:Wu et al., 1998)}. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen ({1:Aarskog et al., 1997}). Some cases present with severe mental retardation along with short stature ({15:Radovick et al., 1992}). Genetic Heterogeneity of Combined Pituitary Hormone Deficiency CPHD2 ({262600}), associated with hypogonadism, is caused by mutation in the PROP1 gene ({601538}). CPHD3 ({221750}), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene ({600577}). CPHD4 ({262700}) is caused by mutation in the LHX4 gene ({602146}). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene ({601802}). CPHD6 ({613986}) is caused by mutation in the OTX2 gene ({600037}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pituitary hormone deficiency, combined 1" for support, advocacy or research.

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Pituitary Network Association

To support, pursue, encourage, promote, and, where possible, fund research on pituitary disorders in a sustained and full-time effort to find a cure for these illnesses. The PNA will disseminate information helpful to the medical community, the public, and to pituitary patients and their families on matters regarding early detection, symptoms, treatments and resources available to patients with pituitary disease.

Last Updated: 20 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pituitary hormone deficiency, combined 1" for support, advocacy or research.

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Pituitary Network Association

To support, pursue, encourage, promote, and, where possible, fund research on pituitary disorders in a sustained and full-time effort to find a cure for these illnesses. The PNA will disseminate information helpful to the medical community, the public, and to pituitary patients and their families on matters regarding early detection, symptoms, treatments and resources available to patients with pituitary disease.

http://www.pituitary.org

Last Updated: 20 Feb 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pituitary hormone deficiency, combined 1" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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The terms "Pituitary hormone deficiency, combined 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.