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Pituitary hormone deficiency, combined, 2(CPHD2)

MedGen UID:
209236
Concept ID:
C0878683
Disease or Syndrome
Synonyms: Ateliotic dwarfism with hypogonadism; Hanhart dwarfism; Pituitary dwarfism III; PROP1-Related Combined Pituitary Hormone Deficiency
 
Gene (location): PROP1 (5q35.3)
 
Monarch Initiative: MONDO:0009878
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). At birth, in contrast to individuals with congenital CPHD of other etiologies, neonates with PROP1-related CPHD lack perinatal signs of hypopituitarism. Mean birth weights and lengths are usually within the normal range and neonatal hypoglycemia and prolonged neonatal jaundice are not prevalent findings. Most affected individuals are ascertained because of short stature during childhood. Although TSH deficiency can present shortly after birth, TSH deficiency usually occurs with or after the onset of GH deficiency. Hypothyroidism is usually mild. FSH and LH deficiencies are typically identified at the age of onset of puberty. 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. Neuroimaging of hypothalamic-pituitary region usually demonstrates a hypoplastic or normal anterior pituitary lobe and a normal posterior pituitary lobe. [from GeneReviews]
Authors:
Luciani Renata Carvalho  |  Mirian Yumie Nishi  |  Fernanda Azevedo Correa, et. al.   view full author information

Clinical features

From HPO
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Panhypopituitarism
MedGen UID:
69171
Concept ID:
C0242343
Disease or Syndrome
A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin).
Isolated prolactin deficiency
MedGen UID:
75758
Concept ID:
C0271586
Finding
A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production.
Hypoglycemic seizures
MedGen UID:
164079
Concept ID:
C0877056
Disease or Syndrome
Neonatal hypoglycemia
MedGen UID:
57646
Concept ID:
C0158986
Finding
Blood glucose concentration below the lower limit of established reference ranges in a newborn.
Adrenal insufficiency
MedGen UID:
1351
Concept ID:
C0001623
Disease or Syndrome
Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands.
Hypogonadism
MedGen UID:
5711
Concept ID:
C0020619
Disease or Syndrome
A decreased functionality of the gonad.
Hypothyroidism
MedGen UID:
6991
Concept ID:
C0020676
Disease or Syndrome
Deficiency of thyroid hormone.
Decreased thyroid-stimulating hormone level
MedGen UID:
717708
Concept ID:
C1295607
Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
Abnormal circulating adrenocorticotropin concentration
MedGen UID:
869154
Concept ID:
C4023574
Finding
An abnormal concentration of corticotropin in the blood.
Decreased circulating follicle stimulating hormone concentration
MedGen UID:
892977
Concept ID:
C4072889
Finding
A reduction of the circulating level of follicle-stimulating hormone (FSH).
Decreased circulating luteinizing hormone level
MedGen UID:
893008
Concept ID:
C4072890
Finding
A reduction in the circulating level of luteinizing hormone (LH).
Reduced circulating growth hormone concentration
MedGen UID:
1815075
Concept ID:
C5706169
Finding
Concentration of growth hormone in the blood circulation below normal limits.

Professional guidelines

PubMed

Gianatti EJ, Grossmann M
Diabet Med 2020 Feb;37(2):174-186. Epub 2019 Jun 4 doi: 10.1111/dme.13977. PMID: 31006133
Almandoz JP, Gharib H
Med Clin North Am 2012 Mar;96(2):203-21. Epub 2012 Feb 14 doi: 10.1016/j.mcna.2012.01.005. PMID: 22443971
Falsetti L, Gambera A, Platto C, Legrenzi L
Am J Clin Dermatol 2000 Mar-Apr;1(2):89-99. doi: 10.2165/00128071-200001020-00003. PMID: 11702316

Recent clinical studies

Etiology

Jakobsen LK, Jensen RB, Birkebæk NH, Hansen D, Christensen AR, Bjerrum MC, Christesen HT
J Clin Endocrinol Metab 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198. PMID: 37043518Free PMC Article
Marques JVO, Boguszewski CL
Rev Endocr Metab Disord 2020 Jun;21(2):225-233. doi: 10.1007/s11154-019-09530-y. PMID: 31984458
Almandoz JP, Gharib H
Med Clin North Am 2012 Mar;96(2):203-21. Epub 2012 Feb 14 doi: 10.1016/j.mcna.2012.01.005. PMID: 22443971
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793
Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E
Lancet 2007 Apr 28;369(9571):1461-1470. doi: 10.1016/S0140-6736(07)60673-4. PMID: 17467517

Diagnosis

Jakobsen LK, Jensen RB, Birkebæk NH, Hansen D, Christensen AR, Bjerrum MC, Christesen HT
J Clin Endocrinol Metab 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198. PMID: 37043518Free PMC Article
Firouzi M, Sherkatolabbasieh H, Shafizadeh S
Endocr Metab Immune Disord Drug Targets 2021;21(2):288-297. doi: 10.2174/1871530320666200704144912. PMID: 32621723
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB
Arch Endocrinol Metab 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139. PMID: 31090814Free PMC Article
Almandoz JP, Gharib H
Med Clin North Am 2012 Mar;96(2):203-21. Epub 2012 Feb 14 doi: 10.1016/j.mcna.2012.01.005. PMID: 22443971
Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E
Lancet 2007 Apr 28;369(9571):1461-1470. doi: 10.1016/S0140-6736(07)60673-4. PMID: 17467517

Therapy

Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Almandoz JP, Gharib H
Med Clin North Am 2012 Mar;96(2):203-21. Epub 2012 Feb 14 doi: 10.1016/j.mcna.2012.01.005. PMID: 22443971
Khandelwal D, Tandon N
Drugs 2012 Jan 1;72(1):17-33. doi: 10.2165/11598070-000000000-00000. PMID: 22191793
Dhillon S, Keating GM
Drugs 2008;68(11):1529-40. doi: 10.2165/00003495-200868110-00005. PMID: 18627209
Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E
Lancet 2007 Apr 28;369(9571):1461-1470. doi: 10.1016/S0140-6736(07)60673-4. PMID: 17467517

Prognosis

Jakobsen LK, Jensen RB, Birkebæk NH, Hansen D, Christensen AR, Bjerrum MC, Christesen HT
J Clin Endocrinol Metab 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198. PMID: 37043518Free PMC Article
Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Firouzi M, Sherkatolabbasieh H, Shafizadeh S
Endocr Metab Immune Disord Drug Targets 2021;21(2):288-297. doi: 10.2174/1871530320666200704144912. PMID: 32621723
Gianatti EJ, Grossmann M
Diabet Med 2020 Feb;37(2):174-186. Epub 2019 Jun 4 doi: 10.1111/dme.13977. PMID: 31006133
Gergics P
Exp Suppl 2019;111:263-298. doi: 10.1007/978-3-030-25905-1_13. PMID: 31588536

Clinical prediction guides

Jakobsen LK, Jensen RB, Birkebæk NH, Hansen D, Christensen AR, Bjerrum MC, Christesen HT
J Clin Endocrinol Metab 2023 Sep 18;108(10):2475-2485. doi: 10.1210/clinem/dgad198. PMID: 37043518Free PMC Article
Wit JM
Front Endocrinol (Lausanne) 2021;12:812196. Epub 2021 Dec 16 doi: 10.3389/fendo.2021.812196. PMID: 34975773Free PMC Article
Firouzi M, Sherkatolabbasieh H, Shafizadeh S
Endocr Metab Immune Disord Drug Targets 2021;21(2):288-297. doi: 10.2174/1871530320666200704144912. PMID: 32621723
Gergics P
Exp Suppl 2019;111:263-298. doi: 10.1007/978-3-030-25905-1_13. PMID: 31588536
Correa FA, Nakaguma M, Madeira JLO, Nishi MY, Abrão MG, Jorge AAL, Carvalho LR, Arnhold IJP, Mendonça BB
Arch Endocrinol Metab 2019 May 13;63(2):167-174. doi: 10.20945/2359-3997000000139. PMID: 31090814Free PMC Article

Recent systematic reviews

Van Mieghem E, De Block C, De Herdt C
Pituitary 2024 Feb;27(1):23-32. Epub 2023 Dec 27 doi: 10.1007/s11102-023-01366-9. PMID: 38151529
Garofalo V, Condorelli RA, Cannarella R, Aversa A, Calogero AE, La Vignera S
Nutrients 2023 Nov 15;15(22) doi: 10.3390/nu15224790. PMID: 38004184Free PMC Article
Jadhav S, Diwaker C, Lila AR, Gada JV, Kale S, Sarathi V, Thadani PM, Arya S, Patil VA, Shah NS, Bandgar TR
Pituitary 2021 Oct;24(5):657-669. Epub 2021 Mar 20 doi: 10.1007/s11102-021-01140-9. PMID: 33742319
Luo J, Wang X, Yuan L, Guo L
Front Endocrinol (Lausanne) 2021;12:629831. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.629831. PMID: 33716980Free PMC Article
De Rienzo F, Mellone S, Bellone S, Babu D, Fusco I, Prodam F, Petri A, Muniswamy R, De Luca F, Salerno M, Momigliano-Richardi P, Bona G, Giordano M; Italian Study Group on Genetics of CPHD
Clin Endocrinol (Oxf) 2015 Dec;83(6):849-60. Epub 2015 Aug 6 doi: 10.1111/cen.12849. PMID: 26147833

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