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Panhypopituitarism

MedGen UID:
69171
Concept ID:
C0242343
Disease or Syndrome
Synonym: Combined Pituitary Hormone Deficiency
SNOMED CT: Panhypopituitarism (32390006); Primary hypopituitarism (32390006); Deficient secretion of all pituitary hormones (32390006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
HPO: HP:0000871
Monarch Initiative: MONDO:0019591
OMIM®: 262600
Orphanet: ORPHA90695

Definition

A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPanhypopituitarism
Follow this link to review classifications for Panhypopituitarism in Orphanet.

Conditions with this feature

Pallister-Hall syndrome
MedGen UID:
120514
Concept ID:
C0265220
Disease or Syndrome
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. Individuals with mild GLI3-PHS may be incorrectly diagnosed as having isolated postaxial polydactyly type A. Individuals with GLI3-PHS can have pituitary insufficiency and may die as neonates from undiagnosed and untreated adrenal insufficiency.
Panhypopituitarism, X-linked
MedGen UID:
87439
Concept ID:
C0342376
Disease or Syndrome
Pituitary hormone deficiency, combined, 2
MedGen UID:
209236
Concept ID:
C0878683
Disease or Syndrome
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.
Holoprosencephaly 9
MedGen UID:
324369
Concept ID:
C1835819
Disease or Syndrome
Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Intellectual disability, X-linked, with panhypopituitarism
MedGen UID:
394771
Concept ID:
C2678223
Disease or Syndrome
Joubert syndrome 26
MedGen UID:
900415
Concept ID:
C4084843
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Trichothiodystrophy 5, nonphotosensitive
MedGen UID:
899675
Concept ID:
C4225420
Disease or Syndrome
Trichothiodystrophy-5 (TTD5) is an X-linked disorder characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities (summary by Mendelsohn et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of trichothiodystrophy, see TTD1 (601675).
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities
MedGen UID:
1708579
Concept ID:
C5394517
Disease or Syndrome
Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities (NEDSHBA) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects. Death in childhood may occur (summary by Marafi et al., 2020).
Deeah syndrome
MedGen UID:
1756624
Concept ID:
C5436579
Disease or Syndrome
DEEAH syndrome is an autosomal recessive multisystemic disorder with onset in early infancy. Affected individuals usually present in the perinatal period with respiratory insufficiency, apneic episodes, and generalized hypotonia. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Other common features include endocrine, pancreatic exocrine, and autonomic dysfunction, as well as hematologic disturbances, mainly low hemoglobin. Patients also have dysmorphic and myopathic facial features. Additional more variable features include seizures, undescended testes, and distal skeletal anomalies. Death in early childhood may occur (summary by Schneeberger et al., 2020).

Professional guidelines

PubMed

Massimi L, Palombi D, Musarra A, Bianchi F, Frassanito P, Tamburrini G, Di Rocco C
Childs Nerv Syst 2023 Oct;39(10):2613-2632. Epub 2023 Sep 20 doi: 10.1007/s00381-023-06143-4. PMID: 37728836Free PMC Article
Van Schaik J, Schouten-van Meeteren AYN, Vos-Kerkhof E, Janssens GO, Porro GL, Fiocco M, Bakker B, Tissing WJE, Hoving EW, van Santen HM
Neuro Oncol 2023 Dec 8;25(12):2250-2261. doi: 10.1093/neuonc/noad112. PMID: 37381692Free PMC Article
Peck DM, Voss LM, Voss TT
Am Fam Physician 2017 Jun 15;95(12):779-784. PMID: 28671425

Recent clinical studies

Etiology

Massimi L, Palombi D, Musarra A, Bianchi F, Frassanito P, Tamburrini G, Di Rocco C
Childs Nerv Syst 2023 Oct;39(10):2613-2632. Epub 2023 Sep 20 doi: 10.1007/s00381-023-06143-4. PMID: 37728836Free PMC Article
Fan YH, Li Z
Orphanet J Rare Dis 2022 Mar 18;17(1):126. doi: 10.1186/s13023-022-02281-1. PMID: 35303908Free PMC Article
Emanuelli E, Zanotti C, Munari S, Baldovin M, Schiavo G, Denaro L
Acta Otorhinolaryngol Ital 2021 Apr;41(Suppl. 1):S30-S41. doi: 10.14639/0392-100X-suppl.1-41-2021-03. PMID: 34060518Free PMC Article
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Rahmani R, Sukumaran M, Donaldson AM, Akselrod O, Lavi E, Schwartz TH
J Neurosurg 2015 Apr;122(4):812-7. Epub 2015 Jan 23 doi: 10.3171/2014.12.JNS14542. PMID: 25614942

Diagnosis

Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
Feldt-Rasmussen U, Effraimidis G, Klose M
Mol Cell Endocrinol 2021 Apr 5;525:111173. Epub 2021 Feb 4 doi: 10.1016/j.mce.2021.111173. PMID: 33549603
Guerri G, Maniscalchi T, Barati S, Dhuli K, Busetto GM, Del Giudice F, De Berardinis E, De Antoni L, Miertus J, Bertelli M
Acta Biomed 2019 Sep 30;90(10-S):75-82. doi: 10.23750/abm.v90i10-S.8764. PMID: 31577259Free PMC Article
Peck DM, Voss LM, Voss TT
Am Fam Physician 2017 Jun 15;95(12):779-784. PMID: 28671425
Keleştimur F
Pituitary 2003;6(4):181-8. doi: 10.1023/b:pitu.0000023425.20854.8e. PMID: 15237929

Therapy

Baldo F, Barbi E, Tornese G
Ital J Pediatr 2021 Sep 6;47(1):180. doi: 10.1186/s13052-021-01134-0. PMID: 34488834Free PMC Article
Shikuma J, Kan K, Ito R, Hara K, Sakai H, Miwa T, Kanazawa A, Odawara M
Pituitary 2017 Apr;20(2):282-291. doi: 10.1007/s11102-016-0773-7. PMID: 27812776
Zhang Z, Moreno A
J Addict Med 2014 Nov-Dec;8(6):474-5. doi: 10.1097/ADM.0000000000000073. PMID: 25187976
Lamas Oliveira C
Endocrinol Nutr 2013 Nov;60(9):529-34. Epub 2013 Mar 26 doi: 10.1016/j.endonu.2012.11.008. PMID: 23538279
Molitch ME, Gillam MP
Horm Res 2007;68 Suppl 5:145-50. Epub 2007 Dec 10 doi: 10.1159/000110611. PMID: 18174733

Prognosis

Bobeff EJ, Mathios D, Mistry AA, Dobri GA, Souweidane MM, Anand VK, Tabaee A, Kacker A, Greenfield JP, Schwartz TH
J Neurosurg 2023 Nov 1;139(5):1235-1246. Epub 2023 Apr 28 doi: 10.3171/2023.3.JNS222607. PMID: 37119110
Fan YH, Li Z
Orphanet J Rare Dis 2022 Mar 18;17(1):126. doi: 10.1186/s13023-022-02281-1. PMID: 35303908Free PMC Article
Yavropoulou MP, Tsoli M, Barkas K, Kaltsas G, Grossman A
Endocr Relat Cancer 2020 Oct;27(10):R375-R390. doi: 10.1530/ERC-20-0136. PMID: 32674070
Qiao N
Endocrine 2019 Apr;64(1):31-37. Epub 2018 Dec 19 doi: 10.1007/s12020-018-1830-y. PMID: 30569259
Gholve PA, Cameron DB, Millis MB
Curr Opin Pediatr 2009 Feb;21(1):39-45. doi: 10.1097/MOP.0b013e328320acea. PMID: 19242240

Clinical prediction guides

Massimi L, Palombi D, Musarra A, Bianchi F, Frassanito P, Tamburrini G, Di Rocco C
Childs Nerv Syst 2023 Oct;39(10):2613-2632. Epub 2023 Sep 20 doi: 10.1007/s00381-023-06143-4. PMID: 37728836Free PMC Article
Bobeff EJ, Mathios D, Mistry AA, Dobri GA, Souweidane MM, Anand VK, Tabaee A, Kacker A, Greenfield JP, Schwartz TH
J Neurosurg 2023 Nov 1;139(5):1235-1246. Epub 2023 Apr 28 doi: 10.3171/2023.3.JNS222607. PMID: 37119110
Qiao N
Endocrine 2019 Apr;64(1):31-37. Epub 2018 Dec 19 doi: 10.1007/s12020-018-1830-y. PMID: 30569259
Shikuma J, Kan K, Ito R, Hara K, Sakai H, Miwa T, Kanazawa A, Odawara M
Pituitary 2017 Apr;20(2):282-291. doi: 10.1007/s11102-016-0773-7. PMID: 27812776
Kowalski RJ, Prayson RA, Mayberg MR
Ann Diagn Pathol 2004 Oct;8(5):290-4. doi: 10.1016/j.anndiagpath.2004.07.006. PMID: 15494936

Recent systematic reviews

Palmisciano P, Young K, Ogasawara M, Yousefi O, Ogasawara C, Ferini G, Bin-Alamer O, Sharma M, Umana GE, Yu K, Cohen-Gadol AA, El Ahmadieh TY, Haider AS
Anticancer Res 2022 Sep;42(9):4189-4197. doi: 10.21873/anticanres.15919. PMID: 36039438
Palmisciano P, Ogasawara C, Ogasawara M, Ferini G, Scalia G, Haider AS, Bin Alamer O, Salvati M, Umana GE
Pituitary 2022 Jun;25(3):404-419. Epub 2022 Mar 29 doi: 10.1007/s11102-022-01219-x. PMID: 35349010
Giagulli VA, Castellana M, Perrone R, Guastamacchia E, Iacoviello M, Triggiani V
Endocr Metab Immune Disord Drug Targets 2017 Nov 16;17(4):285-296. doi: 10.2174/1871530317666170919121729. PMID: 28925898Free PMC Article
Carvalho P, Lau E, Carvalho D
Pituitary 2015 Dec;18(6):844-60. doi: 10.1007/s11102-015-0661-6. PMID: 26113357
Del Brutto OH, Del Brutto VJ
Acta Neurol Belg 2013 Sep;113(3):225-7. Epub 2013 Apr 20 doi: 10.1007/s13760-013-0199-1. PMID: 23605125

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