Hypopituitarism causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Iqra Qamar M.D.[2]

Overview

Causes of hypopituitarism can be classified based upon the etiology into congenital or acquired. Common congenital causes include idiopathic, anatomic lesion in the sella turcica and CNS malformations. Common acquired causes may include pituitary macroadenoma, craniopharyngioma, surgery, radiation, traumatic brain injury, Sheehan's syndrome, apoplexy, SAH, meningitis, hypophysitis, meningioma, lymphoma, hemochromatosis and Wegner's granulomatosis. Less common causes include Peri-natal insults, genetic causes, such as Kallman syndrome, Pallister-Hall syndrome, Rieger syndrome, and pituitary hypoplasia or aplasia.

Common Causes

Causes can be classified based upon the etiology into congenital or acquired. The most common cause is a pituitary tumor. Other possible causes may include cyst or a tumor in hypothalamus or infundibulum, vascular disorders, infiltrative diseases, genetic disorders, radiation, and surgery.

Etiology Underlying cause/disease
Congeital Idiopathic
Anatomic lesion in sella turcica: Rathke's cyst
CNS malformations: septo-optic-dysplasia, Kallmann syndrome, and pituitary stalk interruption syndrome
Acquired Pituitary tumor: mainly displacing macroadenoma (non-functioning or functioning adenomas)
Posterior pituitary tumor: astrocytoma, ganglioneuroma
Metastatic: breast, lungs, colon, prostate
Peripituitary lesions: Craniopharyngioma, meningioma, chordoma, optic nerve glioma
Surgery: Transsphenoidal or transcranial surgery in the hypothalamo-pituitary region
Radiation
Systemic cancer treatment
Traumatic brain injury
Sheehan's syndrome
Pituitary apoplexy
Meningitis
Hypophysitis
Lymphoma

Less common causes:

Less common causes of hypopituitarism include:[1][2][3][4][5][6][7][8][9][10][11][12][13][14]

Causes by Organ System

Cardiovascular Congestive heart failure, arteriosclerosis, arteritis temporalis, eclampsia, intracranial cartoid branch aneurysm
Chemical/Poisoning No underlying causes
Dental No underlying causes
Dermatologic No underlying causes
Drug Side Effect Anticoagulant therapy
Ear Nose Throat No underlying causes
Endocrine Empty sella syndrome, diabetes mellitus, Sheehan's Syndrome, pituitary apoplexy
Environmental No underlying causes
Gastroenterologic No underlying causes
Genetic Hemochromatosis, Genetic mutations: GHRHR, GH1, TSHB, TRHR, TPIT, GnRHR, PC1, POMC, DAX1, CRH, KAL1, FGFR1, leptin, leptin-R, GPR54, Kisspeptin, FSHB, LHB, PROK2, PROKR2, AVP-NPII, POU1F1, PROP1, HESX1, LHX3, LHX4, SOX3, GLI2, SOX2, GLI3, PITX2
Hematologic Blood dyscrasias, sickle cell anemia
Iatrogenic Radiation, surgery
Infectious Disease Fungal, malaria, meningitis, syphillis, tuberculosis
Musculoskeletal/Orthopedic No underlying causes
Neurologic Stroke
Nutritional/Metabolic No underlying causes
Obstetric/Gynecologic Peri-natal insults
Oncologic Brain tumor, meningioma, craniopharyngioma, metastasis, optic nerve neuroma, lymphoma
Ophthalmologic No underlying causes
Overdose/Toxicity No underlying causes
Psychiatric Anorexia nervosa, bulimia nervosa
Pulmonary Sarcoidosis
Renal/Electrolyte Renal failure
Rheumatology/Immunology/Allergy Wegener's granulomatosis
Sexual No underlying causes
Trauma Head trauma
Urologic No underlying causes
Miscellaneous Infiltrative lesions (sarcoidosis, Langerhans cell histiocytosis, hypophysitis, hemochromatosis)

Causes in Alphabetical Order


Hypopituitarism Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hypopituitarism from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hypopituitarism causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hypopituitarism causes

All Images
X-rays
Echo & Ultrasound
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Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

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CDC on Hypopituitarism causes

Hypopituitarism causes in the news

Blogs on Hypopituitarism causes

Directions to Hospitals Treating Hypopituitarism

Risk calculators and risk factors for Hypopituitarism causes

Etiology based on anatomical location of pathology:

Hypopituitarism can be classified based upon the anatomical location of pathology such as hypothalamus or pituitary gland.[15][16][17][18][19][20][21][22][3][10][23][9][12][24][25][26][27][8][28][29][30][31][32][33][34][35][36][37][38][39][40][41][42][43]

Anatomical location Cause
Hypothalmic Mass lesions: 
Radiation : CNS and nasopharyngeal malignancies
Infections: Tuberculous meningitis
Infiltrative lesions:
Other :
Pituitary Mass lesions:
Pituitary radiation
Pituitary surgery
Infection or abscess
Infiltrative lesions:

1. Hypophysitis:

2. Hemochromatosis

Infarction: Sheehan's syndrome
Apoplexy
Empty sella 
Genetic mutations

Genetic Causes

Hypopituitarism is caused by mutation in any one of the following genes.[44][45][46][47][48][49][50][51][52][53][54][55][56][57][58][59][60][61][62][63]

Isolated

hormone abnormalities

Gene Inheritance Phenotype
GH1 AR, AD Isolated GH deficiency
GHRHR AR Isolated GH deficiency
TSHB AR Isolated TSH deficiency
TRHR AR Isolated TSH deficiency
TPIT AR Isolated ACTH deficiency
GnRHR AR HH
PC1 AR ACTH deficiency, hypoglycemia, HH, obesity
POMC AR ACTH deficiency, obesity, red hair
DAX1 XL Adrenal hypoplasia congenital and HH
CRH AR CRH deficiency
KAL1 XL Kallman syndrome, renal agenesis, synkinesia
FGFR1 AD, AR Kallman syndrome, cleft lip and palate, facial dysmorphism
Leptin AR HH, obesity
Leptin-R AR HH, obesity
GPR54 AR HH
Kisspeptin AR HH
FSHB AR Primary amenorrhea, defective spermatogenesis
LHB AR Delayed puberty
PROK2 AD Kallman syndrome, severe sleep disorder, obesity
PROKR2 AD, AR Kallman syndrome
AVP-NPII AR, AD Diabetes insipidus
Combined pituitary hormone deficiency POU1F1 AR, AD GH, TSH, and prolactin deficiencies
PROP1 AR GH, TSH, LH, FSH, prolactin, and evolving ACTH deficiencies
Specific syndromes HESX1 AR, AD Septo-optic dysplasia
LHX3 AR GH, TSH, LH, FSH, prolactin deficiencies, limited neck rotation
LHX4 AD GH, TSH, ACTH deficiencies with cerebellar abnormalities
SOX3 XL Hypopituitarism and mental retardation
GLI2 AD Holoprosencephaly and multiple midline defects
SOX2 AD Anophthalmia, hypopituitarism, oesophageal atresia
GLI3 AD Pallister-Hall syndrome
PITX2 AD Rieger syndrome

References

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  2. ↑ Eiholzer U, Zachmann M, Gnehm HE, Prader A (1986). "Recovery from post-traumatic anterior pituitary insufficiency". Eur. J. Pediatr. 145 (1–2): 128–30. PMID 3089793.
  3. ↑ 3.0 3.1 Edwards OM, Clark JD (1986). "Post-traumatic hypopituitarism. Six cases and a review of the literature". Medicine (Baltimore). 65 (5): 281–90. PMID 3018425.
  4. ↑ Ishikawa S, Furuse M, Saito T, Okada K, Kuzuya T (1988). "Empty sella in control subjects and patients with hypopituitarism". Endocrinol. Jpn. 35 (5): 665–74. PMID 3220045.
  5. ↑ Nakagawa Y, Matsumoto K, Fukami T, Takase K (1984). "Exploration of the pituitary stalk and gland by high-resolution computed tomography. Comparative study of normal subjects and cases with microadenoma". Neuroradiology. 26 (6): 473–8. PMID 6504317.
  6. ↑ Asa SL, Bilbao JM, Kovacs K, Josse RG, Kreines K (1981). "Lymphocytic hypophysitis of pregnancy resulting in hypopituitarism: a distinct clinicopathologic entity". Ann. Intern. Med. 95 (2): 166–71. PMID 7196190.
  7. ↑ Miura M, Ushio Y, Kuratsu J, Ikeda J, Kai Y, Yamashiro S (1989). "Lymphocytic adenohypophysitis: report of two cases". Surg Neurol. 32 (6): 463–70. PMID 2700055.
  8. ↑ 8.0 8.1 Kelly TM, Edwards CQ, Meikle AW, Kushner JP (1984). "Hypogonadism in hemochromatosis: reversal with iron depletion". Ann. Intern. Med. 101 (5): 629–32. PMID 6435491.
  9. ↑ 9.0 9.1 Bondanelli M, Ambrosio MR, Carli A, Bergonzoni A, Bertocchi A, Zatelli MC, Ceruti S, Valle D, Basaglia N, degli Uberti EC (2010). "Predictors of pituitary dysfunction in patients surviving ischemic stroke". J. Clin. Endocrinol. Metab. 95 (10): 4660–8. doi:10.1210/jc.2010-0611. PMID 20660027.
  10. ↑ 10.0 10.1 Schneider HJ, Aimaretti G, Kreitschmann-Andermahr I, Stalla GK, Ghigo E (2007). "Hypopituitarism". Lancet. 369 (9571): 1461–70. doi:10.1016/S0140-6736(07)60673-4. PMID 17467517.
  11. ↑ Klose M, Brennum J, Poulsgaard L, Kosteljanetz M, Wagner A, Feldt-Rasmussen U (2010). "Hypopituitarism is uncommon after aneurysmal subarachnoid haemorrhage". Clin. Endocrinol. (Oxf). 73 (1): 95–101. doi:10.1111/j.1365-2265.2010.03791.x. PMID 20105184.
  12. ↑ 12.0 12.1 Schneider HJ, Kreitschmann-Andermahr I, Ghigo E, Stalla GK, Agha A (2007). "Hypothalamopituitary dysfunction following traumatic brain injury and aneurysmal subarachnoid hemorrhage: a systematic review". JAMA. 298 (12): 1429–38. doi:10.1001/jama.298.12.1429. PMID 17895459.
  13. ↑ Hannon MJ, Behan LA, O'Brien MM, Tormey W, Javadpour M, Sherlock M, Thompson CJ (2015). "Chronic hypopituitarism is uncommon in survivors of aneurysmal subarachnoid haemorrhage". Clin. Endocrinol. (Oxf). 82 (1): 115–21. doi:10.1111/cen.12533. PMID 24965315.
  14. ↑ Ooi TC, Russell NA (1986). "Hypopituitarism resulting from an intrasellar carotid aneurysm". Can J Neurol Sci. 13 (1): 70–1. PMID 3955456.
  15. ↑ Constine LS, Woolf PD, Cann D, Mick G, McCormick K, Raubertas RF, Rubin P (1993). "Hypothalamic-pituitary dysfunction after radiation for brain tumors". N. Engl. J. Med. 328 (2): 87–94. doi:10.1056/NEJM199301143280203. PMID 8416438.
  16. ↑ Lam KS, Wang C, Yeung RT, Ma JT, Ho JH, Tse VK, Ling N (1986). "Hypothalamic hypopituitarism following cranial irradiation for nasopharyngeal carcinoma". Clin. Endocrinol. (Oxf). 24 (6): 643–51. PMID 3098456.
  17. ↑ Appelman-Dijkstra NM, Kokshoorn NE, Dekkers OM, Neelis KJ, Biermasz NR, Romijn JA, Smit JW, Pereira AM (2011). "Pituitary dysfunction in adult patients after cranial radiotherapy: systematic review and meta-analysis". J. Clin. Endocrinol. Metab. 96 (8): 2330–40. doi:10.1210/jc.2011-0306. PMC 3146793. PMID 21613351.
  18. ↑ Kaltsas GA, Powles TB, Evanson J, Plowman PN, Drinkwater JE, Jenkins PJ, Monson JP, Besser GM, Grossman AB (2000). "Hypothalamo-pituitary abnormalities in adult patients with langerhans cell histiocytosis: clinical, endocrinological, and radiological features and response to treatment". J. Clin. Endocrinol. Metab. 85 (4): 1370–6. doi:10.1210/jcem.85.4.6501. PMID 10770168.
  19. ↑ Imashuku S, Kudo N, Kaneda S, Kuroda H, Shiwa T, Hiraiwa T, Inagaki A, Morimoto A (2011). "Treatment of patients with hypothalamic-pituitary lesions as adult-onset Langerhans cell histiocytosis". Int. J. Hematol. 94 (6): 556–60. doi:10.1007/s12185-011-0955-z. PMID 22015494.
  20. ↑ Lam KS, Sham MM, Tam SC, Ng MM, Ma HT (1993). "Hypopituitarism after tuberculous meningitis in childhood". Ann. Intern. Med. 118 (9): 701–6. PMID 8460856.
  21. ↑ Morichika D, Sato-Hisamoto A, Hotta K, Takata K, Iwaki N, Uchida K, Minami D, Kubo T, Tanimoto M, Kiura K (2014). "Fatal Candida septic shock during systemic chemotherapy in lung cancer patient receiving corticosteroid replacement therapy for hypopituitarism: a case report". Jpn. J. Clin. Oncol. 44 (5): 501–5. doi:10.1093/jjco/hyu019. PMID 24646812.
  22. ↑ Harbeck B, Klose S, Buchfelder M, Brabant G, Lehnert H (2011). "Hypopituitarism in a HIV affected patient". Exp. Clin. Endocrinol. Diabetes. 119 (10): 633–5. doi:10.1055/s-0031-1284366. PMID 21922454.
  23. ↑ Agha A, Thornton E, O'Kelly P, Tormey W, Phillips J, Thompson CJ (2004). "Posterior pituitary dysfunction after traumatic brain injury". J. Clin. Endocrinol. Metab. 89 (12): 5987–92. doi:10.1210/jc.2004-1058. PMID 15579748.
  24. ↑ Kronvall E, Valdemarsson S, Säveland H, Nilsson OG (2015). "High prevalence of pituitary dysfunction after aneurysmal subarachnoid hemorrhage: a long-term prospective study using dynamic endocrine testing". World Neurosurg. 83 (4): 574–82. doi:10.1016/j.wneu.2014.12.007. PMID 25514615.
  25. ↑ Jahangiri A, Wagner JR, Han SW, Tran MT, Miller LM, Chen R, Tom MW, Ostling LR, Kunwar S, Blevins L, Aghi MK (2016). "Improved versus worsened endocrine function after transsphenoidal surgery for nonfunctional pituitary adenomas: rate, time course, and radiological analysis". J. Neurosurg. 124 (3): 589–95. doi:10.3171/2015.1.JNS141543. PMID 26252454.
  26. ↑ Snyder PJ, Fowble BF, Schatz NJ, Savino PJ, Gennarelli TA (1986). "Hypopituitarism following radiation therapy of pituitary adenomas". Am. J. Med. 81 (3): 457–62. PMID 3092668.
  27. ↑ Eastman RC, Gorden P, Roth J (1979). "Conventional supervoltage irradiation is an effective treatment for acromegaly". J. Clin. Endocrinol. Metab. 48 (6): 931–40. doi:10.1210/jcem-48-6-931. PMID 447799.
  28. ↑ Leporati P, Landek-Salgado MA, Lupi I, Chiovato L, Caturegli P (2011). "IgG4-related hypophysitis: a new addition to the hypophysitis spectrum". J. Clin. Endocrinol. Metab. 96 (7): 1971–80. doi:10.1210/jc.2010-2970. PMC 3135201. PMID 21593109.
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  30. ↑ Thodou E, Asa SL, Kontogeorgos G, Kovacs K, Horvath E, Ezzat S (1995). "Clinical case seminar: lymphocytic hypophysitis: clinicopathological findings". J. Clin. Endocrinol. Metab. 80 (8): 2302–11. doi:10.1210/jcem.80.8.7629223. PMID 7629223.
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  32. ↑ Honegger J, Schlaffer S, Menzel C, Droste M, Werner S, Elbelt U, Strasburger C, Störmann S, Küppers A, Streetz-van der Werf C, Deutschbein T, Stieg M, Rotermund R, Milian M, Petersenn S (2015). "Diagnosis of Primary Hypophysitis in Germany". J. Clin. Endocrinol. Metab. 100 (10): 3841–9. doi:10.1210/jc.2015-2152. PMID 26262437.
  33. ↑ Kristof RA, Van Roost D, Klingmüller D, Springer W, Schramm J (1999). "Lymphocytic hypophysitis: non-invasive diagnosis and treatment by high dose methylprednisolone pulse therapy?". J. Neurol. Neurosurg. Psychiatr. 67 (3): 398–402. PMC 1736542. PMID 10449568.
  34. ↑ Chico A, Puig-Domingo M, Martul P, De Juan M, Prats JM, Mauricio D, Webb SM (1998). "Reversible endocrine dysfunction and pituitary stalk enlargement". J. Endocrinol. Invest. 21 (2): 122–7. doi:10.1007/BF03350326. PMID 9585387.
  35. ↑ Tebben PJ, Atkinson JL, Scheithauer BW, Erickson D (2007). "Granulomatous adenohypophysitis after interferon and ribavirin therapy". Endocr Pract. 13 (2): 169–75. doi:10.4158/EP.13.2.169. PMID 17490932.
  36. ↑ Bando H, Iguchi G, Fukuoka H, Taniguchi M, Yamamoto M, Matsumoto R, Suda K, Nishizawa H, Takahashi M, Kohmura E, Takahashi Y (2014). "The prevalence of IgG4-related hypophysitis in 170 consecutive patients with hypopituitarism and/or central diabetes insipidus and review of the literature". Eur. J. Endocrinol. 170 (2): 161–72. doi:10.1530/EJE-13-0642. PMID 24165017.
  37. ↑ Barkan AL (1989). "Pituitary atrophy in patients with Sheehan's syndrome". Am. J. Med. Sci. 298 (1): 38–40. PMID 2750772.
  38. ↑ Keleştimur F (2003). "Sheehan's syndrome". Pituitary. 6 (4): 181–8. PMID 15237929.
  39. ↑ Zargar AH, Singh B, Laway BA, Masoodi SR, Wani AI, Bashir MI (2005). "Epidemiologic aspects of postpartum pituitary hypofunction (Sheehan's syndrome)". Fertil. Steril. 84 (2): 523–8. doi:10.1016/j.fertnstert.2005.02.022. PMID 16084902.
  40. ↑ Diri H, Tanriverdi F, Karaca Z, Senol S, Unluhizarci K, Durak AC, Atmaca H, Kelestimur F (2014). "Extensive investigation of 114 patients with Sheehan's syndrome: a continuing disorder". Eur. J. Endocrinol. 171 (3): 311–8. doi:10.1530/EJE-14-0244. PMID 24917653.
  41. ↑ Vargas G, Gonzalez B, Guinto G, Mendoza V, López-Félix B, Zepeda E, Mercado M (2014). "Pituitary apoplexy in nonfunctioning pituitary macroadenomas: a case-control study". Endocr Pract. 20 (12): 1274–80. doi:10.4158/EP14120.OR. PMID 25100377.
  42. ↑ Capatina C, Inder W, Karavitaki N, Wass JA (2015). "Management of endocrine disease: pituitary tumour apoplexy". Eur. J. Endocrinol. 172 (5): R179–90. doi:10.1530/EJE-14-0794. PMID 25452466.
  43. ↑ Dalan R, Leow MK (2008). "Pituitary abscess: our experience with a case and a review of the literature". Pituitary. 11 (3): 299–306. doi:10.1007/s11102-007-0057-3. PMID 17594523.
  44. ↑ Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT (2003). "A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction". J. Clin. Invest. 112 (8): 1192–201. doi:10.1172/JCI18589. PMC 213489. PMID 14561704.
  45. ↑ Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, di Iorgi N, Lorini R, Amselem S (2006). "Novel HESX1 mutations associated with a life-threatening neonatal phenotype, pituitary aplasia, but normally located posterior pituitary and no optic nerve abnormalities". J. Clin. Endocrinol. Metab. 91 (11): 4528–36. doi:10.1210/jc.2006-0426. PMID 16940453.
  46. ↑ Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers A, Goossens M, Grüters A, Amselem S (2000). "Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency". Nat. Genet. 25 (2): 182–6. doi:10.1038/76041. PMID 10835633. Vancouver style error: initials (help)
  47. ↑ Machinis K, Pantel J, Netchine I, Léger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S (2001). "Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4". Am. J. Hum. Genet. 69 (5): 961–8. PMC 1274372. PMID 11567216.
  48. ↑ Wu W, Cogan JD, Pfäffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA, Rosenfeld MG (1998). "Mutations in PROP1 cause familial combined pituitary hormone deficiency". Nat. Genet. 18 (2): 147–9. doi:10.1038/ng0298-147. PMID 9462743.
  49. ↑ Pellegrini-Bouiller I, Bélicar P, Barlier A, Gunz G, Charvet JP, Jaquet P, Brue T, Vialettes B, Enjalbert A (1996). "A new mutation of the gene encoding the transcription factor Pit-1 is responsible for combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 81 (8): 2790–6. doi:10.1210/jcem.81.8.8768831. PMID 8768831.
  50. ↑ Pfäffle RW, DiMattia GE, Parks JS, Brown MR, Wit JM, Jansen M, Van der Nat H, Van den Brande JL, Rosenfeld MG, Ingraham HA (1992). "Mutation of the POU-specific domain of Pit-1 and hypopituitarism without pituitary hypoplasia". Science. 257 (5073): 1118–21. PMID 1509263.
  51. ↑ Turton JP, Reynaud R, Mehta A, Torpiano J, Saveanu A, Woods KS, Tiulpakov A, Zdravkovic V, Hamilton J, Attard-Montalto S, Parascandalo R, Vella C, Clayton PE, Shalet S, Barton J, Brue T, Dattani MT (2005). "Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 90 (8): 4762–70. doi:10.1210/jc.2005-0570. PMID 15928241.
  52. ↑ Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ (2006). "Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency". J. Clin. Endocrinol. Metab. 91 (3): 747–53. doi:10.1210/jc.2005-2360. PMID 16394081.
  53. ↑ Cogan JD, Wu W, Phillips JA, Arnhold IJ, Agapito A, Fofanova OV, Osorio MG, Bircan I, Moreno A, Mendonca BB (1998). "The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency". J. Clin. Endocrinol. Metab. 83 (9): 3346–9. doi:10.1210/jcem.83.9.5142. PMID 9745452.
  54. ↑ Flück C, Deladoey J, Rutishauser K, Eblé A, Marti U, Wu W, Mullis PE (1998). "Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C)". J. Clin. Endocrinol. Metab. 83 (10): 3727–34. doi:10.1210/jcem.83.10.5172. PMID 9768691.
  55. ↑ Rosenbloom AL, Almonte AS, Brown MR, Fisher DA, Baumbach L, Parks JS (1999). "Clinical and biochemical phenotype of familial anterior hypopituitarism from mutation of the PROP1 gene". J. Clin. Endocrinol. Metab. 84 (1): 50–7. doi:10.1210/jcem.84.1.5366. PMID 9920061.
  56. ↑ Pernasetti F, Toledo SP, Vasilyev VV, Hayashida CY, Cogan JD, Ferrari C, Lourenço DM, Mellon PL (2000). "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". J. Clin. Endocrinol. Metab. 85 (1): 390–7. doi:10.1210/jcem.85.1.6324. PMID 10634415.
  57. ↑ Lee JK, Zhu YS, Cordero JJ, Cai LQ, Labour I, Herrera C, Imperato-McGinley J (2004). "Long-term growth hormone therapy in adulthood results in significant linear growth in siblings with a PROP-1 gene mutation". J. Clin. Endocrinol. Metab. 89 (10): 4850–6. doi:10.1210/jc.2003-031816. PMID 15472175.
  58. ↑ Yamamoto M, Iguchi G, Takeno R, Okimura Y, Sano T, Takahashi M, Nishizawa H, Handayaningshi AE, Fukuoka H, Tobita M, Saitoh T, Tojo K, Mokubo A, Morinobu A, Iida K, Kaji H, Seino S, Chihara K, Takahashi Y (2011). "Adult combined GH, prolactin, and TSH deficiency associated with circulating PIT-1 antibody in humans". J. Clin. Invest. 121 (1): 113–9. doi:10.1172/JCI44073. PMC 3007153. PMID 21123951.
  59. ↑ Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J (2005). "Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations". J. Clin. Endocrinol. Metab. 90 (3): 1323–31. doi:10.1210/jc.2004-1300. PMID 15613420.
  60. ↑ Yang Y, Guo QH, Wang BA, Dou JT, Lv ZH, Ba JM, Lu JM, Pan CY, Mu YM (2013). "Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis". Clin. Endocrinol. (Oxf). 79 (1): 86–92. doi:10.1111/cen.12116. PMID 23199197.
  61. ↑ Wang W, Wang S, Jiang Y, Yan F, Su T, Zhou W, Jiang L, Zhang Y, Ning G (2015). "Relationship between pituitary stalk (PS) visibility and the severity of hormone deficiencies: PS interruption syndrome revisited". Clin. Endocrinol. (Oxf). 83 (3): 369–76. doi:10.1111/cen.12788. PMID 25845766.
  62. ↑ Mendonca BB, Osorio MG, Latronico AC, Estefan V, Lo LS, Arnhold IJ (1999). "Longitudinal hormonal and pituitary imaging changes in two females with combined pituitary hormone deficiency due to deletion of A301,G302 in the PROP1 gene". J. Clin. Endocrinol. Metab. 84 (3): 942–5. doi:10.1210/jcem.84.3.5537. PMID 10084575.
  63. ↑ De Marinis L, Bonadonna S, Bianchi A, Maira G, Giustina A (2005). "Primary empty sella". J. Clin. Endocrinol. Metab. 90 (9): 5471–7. doi:10.1210/jc.2005-0288. PMID 15972577.

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