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Pituitary hormone deficiency, combined 2(CPHD2)

MedGen UID:
209236
Concept ID:
C0878683
Disease or Syndrome
Synonyms: Ateliotic dwarfism with hypogonadism; CPHD2; Hanhart dwarfism; Panhypopituitarism; Pituitary dwarfism III; PROP1-Related Combined Pituitary Hormone Deficiency
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene: PROP1
Cytogenetic location: 5q35.3
OMIM®: 262600

Disease characteristics

PROP1-related combined pituitary hormone deficiency (CPHD) is associated with deficiencies of growth hormone (GH); thyroid-stimulating hormone (TSH); the two gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH); prolactin (PrL); and occasionally adrenocorticotropic hormone (ACTH). Most affected individuals are ascertained because of growth failure and failure to thrive starting in infancy or early childhood (age range: ~9 months to ~8 years). Hypothyroidism is usually mild and occurs in later infancy and childhood. Affected individuals can have absent or delayed and incomplete secondary sexual development with infertility. Untreated males usually have a small penis and small testes. Some females experience menarche, but subsequently require hormone replacement therapy. ACTH deficiency is less common and, when present, usually occurs in adolescence or adulthood. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Laura CG de Graaff   view full author information

Additional description

From GHR
Combined pituitary hormone deficiency is a condition that causes a shortage (deficiency) of several hormones produced by the pituitary gland, which is located at the base of the brain. A lack of these hormones may affect the development of many parts of the body. The first signs of this condition include a failure to grow at the expected rate and short stature that usually becomes apparent in early childhood. People with combined pituitary hormone deficiency may have hypothyroidism, which is underactivity of the butterfly-shaped thyroid gland in the lower neck. Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other features of combined pituitary hormone deficiency include delayed or absent puberty and lack the ability to have biological children (infertility). The condition can also be associated with a deficiency of the hormone cortisol. Cortisol deficiency can impair the body's immune system, causing individuals to be more susceptible to infection. Rarely, people with combined pituitary hormone deficiency have intellectual disability; a short, stiff neck; or underdeveloped optic nerves, which carry visual information from the eyes to the brain.  http://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency

Clinical features

Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A decreased functionality of the gonad.
Panhypopituitarism
MedGen UID:
504638
Concept ID:
CN000817
Finding
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Hypoglycemic seizures
MedGen UID:
505140
Concept ID:
CN001970
Finding
Prolactin deficiency
MedGen UID:
506182
Concept ID:
CN007206
Finding
A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Adrenal insufficiency
MedGen UID:
368779
Concept ID:
C1963059
Finding
Hypothyroidism
MedGen UID:
413085
Concept ID:
C2750951
Finding
Hypogonadism
MedGen UID:
504359
Concept ID:
CN000131
Finding
A decreased functionality of the gonad.
Panhypopituitarism
MedGen UID:
504638
Concept ID:
CN000817
Finding
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Prolactin deficiency
MedGen UID:
506182
Concept ID:
CN007206
Finding
A reduced ability to secrete prolactin, a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Neonatal hypoglycemia
MedGen UID:
505047
Concept ID:
CN001809
Finding
Hypoglycemic seizures
MedGen UID:
505140
Concept ID:
CN001970
Finding

Recent clinical studies

Etiology

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG
Eur J Endocrinol 2014 Jan;170(1):13-21. Epub 2013 Nov 22 doi: 10.1530/EJE-13-0643. PMID: 24088548
Elbornsson M, Götherström G, Bengtsson BÅ, Johannsson G, Svensson J
Growth Horm IGF Res 2013 Dec;23(6):249-55. Epub 2013 Sep 11 doi: 10.1016/j.ghir.2013.09.001. [Epub ahead of print] PMID: 24103227
Huang S, Wang X, Hu C, Ying H
Med Oncol 2013 Dec;30(4):710. Epub 2013 Sep 3 doi: 10.1007/s12032-013-0710-9. [Epub ahead of print] PMID: 23999842
Godi M, Mellone S, Tiradani L, Marabese R, Bardelli C, Salerno M, Prodam F, Bellone S, Petri A, Momigliano-Richiardi P, Bona G, Giordano M
J Clin Endocrinol Metab 2012 Sep;97(9):E1791-7. Epub 2012 Jun 28 doi: 10.1210/jc.2012-1527. [Epub ahead of print] PMID: 22745233
Inoue H, Mukai T, Sakamoto Y, Kimura C, Kangawa N, Itakura M, Ogata T, Ito Y, Fujieda K; Japan Growth Genome Consortium
Clin Endocrinol (Oxf) 2012 Jan;76(1):78-87. doi: 10.1111/j.1365-2265.2011.04165.x. PMID: 21722153

Diagnosis

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG
Eur J Endocrinol 2014 Jan;170(1):13-21. Epub 2013 Nov 22 doi: 10.1530/EJE-13-0643. PMID: 24088548
Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC
Eur J Endocrinol 2012 Sep;167(3):441-52. Epub 2012 Jun 19 doi: 10.1530/EJE-12-0333. [Epub ahead of print] PMID: 22715480
Tenenbaum-Rakover Y, Sobrier ML, Amselem S
Clin Endocrinol (Oxf) 2011 Aug;75(2):214-9. doi: 10.1111/j.1365-2265.2011.04028.x. PMID: 21521297
Bonfig W, Krude H, Schmidt H
Eur J Pediatr 2011 Aug;170(8):1017-21. Epub 2011 Jan 20 doi: 10.1007/s00431-011-1393-x. [Epub ahead of print] PMID: 21249393
Carlomagno Y, Salerno M, Vivenza D, Capalbo D, Godi M, Mellone S, Tiradani L, Corneli G, Momigliano-Richiardi P, Bona G, Giordano M
J Endocrinol Invest 2009 Sep;32(8):653-8. Epub 2009 May 12 doi: 10.3275/6278. [Epub ahead of print] PMID: 19498317

Therapy

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG
Eur J Endocrinol 2014 Jan;170(1):13-21. Epub 2013 Nov 22 doi: 10.1530/EJE-13-0643. PMID: 24088548
Elbornsson M, Götherström G, Bengtsson BÅ, Johannsson G, Svensson J
Growth Horm IGF Res 2013 Dec;23(6):249-55. Epub 2013 Sep 11 doi: 10.1016/j.ghir.2013.09.001. [Epub ahead of print] PMID: 24103227
Gorbenko Del Blanco D, Romero CJ, Diaczok D, de Graaff LC, Radovick S, Hokken-Koelega AC
Eur J Endocrinol 2012 Sep;167(3):441-52. Epub 2012 Jun 19 doi: 10.1530/EJE-12-0333. [Epub ahead of print] PMID: 22715480
Zhang H, Wang Y, Han L, Gu X, Shi D
Horm Res Paediatr 2010;74(2):98-105. Epub 2010 Apr 15 doi: 10.1159/000313375. [Epub ahead of print] PMID: 20395664
de Graaff LC, Argente J, Veenma DC, Drent ML, Uitterlinden AG, Hokken-Koelega AC
Horm Res Paediatr 2010;73(5):363-71. Epub 2010 Apr 14 doi: 10.1159/000308169. [Epub ahead of print] PMID: 20389107

Prognosis

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG
Eur J Endocrinol 2014 Jan;170(1):13-21. Epub 2013 Nov 22 doi: 10.1530/EJE-13-0643. PMID: 24088548
Boguszewski CL, Lacerda CS, Lacerda Filho Ld, Carvalho JA, Boguszewski MC
Arq Bras Endocrinol Metabol 2013 Dec;57(9):709-16. PMID: 24402016
Elbornsson M, Götherström G, Bengtsson BÅ, Johannsson G, Svensson J
Growth Horm IGF Res 2013 Dec;23(6):249-55. Epub 2013 Sep 11 doi: 10.1016/j.ghir.2013.09.001. [Epub ahead of print] PMID: 24103227
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124
Tenenbaum-Rakover Y, Sobrier ML, Amselem S
Clin Endocrinol (Oxf) 2011 Aug;75(2):214-9. doi: 10.1111/j.1365-2265.2011.04028.x. PMID: 21521297

Clinical prediction guides

Blum WF, Deal C, Zimmermann AG, Shavrikova EP, Child CJ, Quigley CA, Drop SL, Cutler GB Jr, Rosenfeld RG
Eur J Endocrinol 2014 Jan;170(1):13-21. Epub 2013 Nov 22 doi: 10.1530/EJE-13-0643. PMID: 24088548
Godi M, Mellone S, Tiradani L, Marabese R, Bardelli C, Salerno M, Prodam F, Bellone S, Petri A, Momigliano-Richiardi P, Bona G, Giordano M
J Clin Endocrinol Metab 2012 Sep;97(9):E1791-7. Epub 2012 Jun 28 doi: 10.1210/jc.2012-1527. [Epub ahead of print] PMID: 22745233
Jagtap VS, Acharya SV, Sarathi V, Lila AR, Budyal SR, Kasaliwal R, Sankhe SS, Bandgar TR, Menon PS, Shah NS
Pituitary 2012 Jun;15(2):243-50. doi: 10.1007/s11102-011-0321-4. PMID: 21667124
Wang CL, Liang L, Shen Z, Zou CC, Fu JF, Dong GP
Genomics 2011 Dec;98(6):440-4. Epub 2011 Oct 6 doi: 10.1016/j.ygeno.2011.09.002. [Epub ahead of print] PMID: 22001696
Carlomagno Y, Salerno M, Vivenza D, Capalbo D, Godi M, Mellone S, Tiradani L, Corneli G, Momigliano-Richiardi P, Bona G, Giordano M
J Endocrinol Invest 2009 Sep;32(8):653-8. Epub 2009 May 12 doi: 10.3275/6278. [Epub ahead of print] PMID: 19498317

Recent systematic reviews

Maison P, Griffin S, Nicoue-Beglah M, Haddad N, Balkau B, Chanson P; Metaanalysis of Blinded, Randomized, Placebo-Controlled Trials
J Clin Endocrinol Metab 2004 May;89(5):2192-9. doi: 10.1210/jc.2003-030840. PMID: 15126541
Petak SM, Nankin HR, Spark RF, Swerdloff RS, Rodriguez-Rigau LJ; American Association of Clinical Endocrinologists
Endocr Pract 2002 Nov-Dec;8(6):440-56. PMID: 15260010

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