Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
Top Authors
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Broad Institute
Cambridge, United States
Karolinska University Hospital
Stockholm, Sweden
University of Michigan
Ann Arbor, United States
Inserm
Paris, France
Haukeland University Hospital
Bergen, Norway
Mayo Clinic
Rochester, United States
Karolinska Institutet
Stockholm, Sweden
Great Ormond Street Hospital
London, United Kingdom
University College London
London, United Kingdom
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
São Paulo, Brazil
References
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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
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Clinical endocrinology 2017; (87(6)):725-732 doi:10.1111/cen.13430.
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Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.
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Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2017; (37()):19-25 doi:10.1016/j.ghir.2017.10.005.
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A newborn with combined pituitary hormone deficiency developing shock and sludge.
Ueda Y, Aoyagi H, Tajima T
Journal of pediatric endocrinology & metabolism : JPEM 2017; (30(12)):1333-1336.
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Pituitary imaging in 129 children with growth hormone deficiency: A spectrum of findings.
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Sudanese journal of paediatrics 2017; (17(1)):30-35.
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Growth Hormone Deficiency in Children: From Suspecting to Diagnosing.
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Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies.
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Journal of the Endocrine Society 2017; (1(10)):1322-1330 doi:10.1210/js.2017-00005.
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The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome.
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Journal of radiology case reports 2017; (11(9)):28-34 doi:10.3941/jrcr.v11i9.3046.
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Reduced Hepatocellular Expression of Canalicular Transport Proteins in Infants with Neonatal Cholestasis and Congenital Hypopituitarism.
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A homozygous splice site ROBO1 mutation in a patient with a novel syndrome with combined pituitary hormone deficiency.
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Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary.
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International journal of molecular sciences 2019; (20(8)) doi:10.3390/ijms20081875.
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Daily adjustment of glucocorticoids by patients with adrenal insufficiency.
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Clinical endocrinology 2019; (91(2)):256-262 doi:10.1111/cen.14004.
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Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series.
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Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(7)):767-774.
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Pituitary Transcription Factor Mutations Leading to Hypopituitarism.
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Experientia supplementum (2012) 2019; (111()):263-298 doi:10.1007/978-3-030-25905-1_13.
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Perioperative management in a patient with panhypopituitarism - evidence based approach: a case report.
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European heart journal. Case reports 2019; (3(3)):ytz145 doi:10.1093/ehjcr/ytz145.
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Delayed diagnosis of congenital hypopituitarism associated with low socio-economic status and/or migration.
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European journal of pediatrics 2020; (179(1)):151-155 doi:10.1007/s00431-019-03489-3.
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Distinguishing between post-trauma pituitary stalk disruption and genetic pituitary stalk interruption syndrome - case presentation and literature overview.
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Pediatric endocrinology, diabetes, and metabolism 2019; (25(3)):155-162 doi:10.5114/pedm.2019.87708.
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Journal of clinical medicine 2019; (8(12)) doi:10.3390/jcm8122153.
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Septo-optic dysplasia with amniotic band syndrome sequence: a case report.
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Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency
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ELECTROCARDIOGRAM CHANGES IN ADDISON DISEASE: POTENTIAL CLINICAL MARKER FOR ADRENAL CRISIS.
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Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders.
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Missing Pituitary Stalk: A Key to the Diagnosis.
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Iranian journal of medical sciences 2020; (45(3)):224-225 doi:10.30476/ijms.2020.82182.1005.
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SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
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Frontiers in endocrinology 2020; (11()):368 doi:10.3389/fendo.2020.00368.
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[Clinical and genetic analysis of an infant with combined pituitary hormone deficiency due to POU1F1 gene variants].
Li Q, Li J, Chang G, et al.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(9)):1018-1020 doi:10.3760/cma.j.cn511374-20190921-00486.
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Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening.
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European journal of endocrinology 2020; (183(6)):627-636.
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Clinical Symptoms and Magnetic Resonance Imaging Findings in Patients with Pituitary Stalk Interruption Syndrome.
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Klinische Padiatrie 2021; (233(2)):83-87 doi:10.1055/a-1288-9888.
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Prenatal diagnosis of isolated agenesis of the septum pellucidum with ultrasound and magnetic resonance imaging
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Perioperative glucocorticoid management based on current evidence.
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Anesthesia and pain medicine 2021; (16(1)):8-15 doi:10.17085/apm.20089.
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Adrenal insufficiency.
Husebye ES, Pearce SH, Krone NP, Kämpe O
Lancet (London, England) 2021; (397(10274)):613-629 doi:10.1016/S0140-6736(21)00136-7.
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Septo-optic Dysplasia with Cerebellar Hemiagenesis.
Parry AH, Wani AH
Journal of pediatric neurosciences 2020; (15(3)):328-329 doi:10.4103/jpn.JPN_93_18.
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Congenital Hypopituitarism During the Neonatal Period: Epidemiology, Pathogenesis, Therapeutic Options, and Outcome.
Bosch I Ara L, Katugampola H, Dattani MT
Frontiers in pediatrics 2020; (8()):600962 doi:10.3389/fped.2020.600962.
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Adrenal insufficiency.
Hahner S, Ross RJ, Arlt W, et al.
Nature reviews. Disease primers 2021; (7(1)):19 doi:10.1038/s41572-021-00252-7.
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Reducing adverse events associated with the glucagon stimulation test for the assessment of growth hormone deficiency in adults with a high prevalence of pituitary hormone deficiencies.
Gogna R, Jung C, McLachlan K, et al.
Clinical endocrinology 2021; (95(1)):125-133 doi:10.1111/cen.14464.
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Lessons of the month: A challenging presentation of hypopituitarism secondary to an intracerebral aneurysm.
Mullarkey EM, Iyer A, Ihuoma A
Clinical medicine (London, England) 2021; (21(2)):e228-e230 doi:10.7861/clinmed.2020-1017.
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Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.
Mnif-Feki M, Safi W, Bougacha-Elleuch N, et al.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2021; (37(9)):848-852 doi:10.1080/09513590.2021.1939298.
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Management of panhypopituitarism during pregnancy: A case report.
van Zundert SKM, Krol CG, Spaan JJ
Case reports in women's health 2021; (32()):e00351 doi:10.1016/j.crwh.2021.e00351.
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Diagnosis of GH Deficiency Without GH Stimulation Tests.
Ibba A, Loche S
Frontiers in endocrinology 2022; (13()):853290 doi:10.3389/fendo.2022.853290.
PMID: 35250894 - 60
Overview of Congenital Hypopituitarism for the Neonatologist.
Bautista G
NeoReviews 2022; (23(5)):e300-e310 doi:10.1542/neo.23-5-e300.
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Growth Hormone Stimulation Testing: To Test or Not to Test? That Is One of the Questions.
Yau M, Rapaport R
Frontiers in endocrinology 2022; (13()):902364 doi:10.3389/fendo.2022.902364.
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Central adrenal insufficiency: who, when, and how? From the evidence to the controversies - an exploratory review.
Bitencourt MR, Batista RL, Biscotto I, Carvalho LR
Archives of endocrinology and metabolism 2022; (66(4)):541-550.
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Presentation and diagnosis of childhood-onset combined pituitary hormone deficiency: A single center experience from over 30 years.
Hietamäki J, Kärkinen J, Iivonen AP, et al.
EClinicalMedicine 2022; (51()):101556 doi:10.1016/j.eclinm.2022.101556.
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Heterozygous variants in SIX3 and POU1F1 cause pituitary hormone deficiency in mouse and man.
Bando H, Brinkmeier ML, Castinetti F, et al.
Human molecular genetics 2023; (32(3)):367-385 doi:10.1093/hmg/ddac192.
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Characteristics of paediatric hypopituitarism patients in Latvia: a single-centre 25-year retrospective study.
Kornete L, Grunte D, Zakis D
Pediatric endocrinology, diabetes, and metabolism 2022; (28(4)):287-293 doi:10.5114/pedm.2022.118320.
PMID: 36047289 - 66
Case of Junctional Rhythm in the Setting of Acute Adrenal Insufficiency.
Patel P, Kelschenbach K
Cureus 2022; (14(8)):e27605 doi:10.7759/cureus.27605.
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Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency.
Eren E, Ongen YD, Ozgur T, et al.
Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(11)):1394-1400 doi:10.1515/jpem-2022-0366.
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Delayed Diagnosis of Congenital Combined Pituitary Hormone Deficiency including Severe Growth Hormone Deficiency in Children with Persistent Neonatal Hypoglycemia-Case Reports and Review.
Smyczyńska J, Pawelak N, Hilczer M, Lewiński A
International journal of molecular sciences 2022; (23(19)) doi:10.3390/ijms231911069.
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Novel genes and variants associated with congenital pituitary hormone deficiency in the era of next-generation sequencing.
Bando H, Urai S, Kanie K, et al.
Frontiers in endocrinology 2022; (13()):1008306 doi:10.3389/fendo.2022.1008306.
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Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report.
Lin SZ, Ma QJ, Pang QM, et al.
World journal of clinical cases 2022; (10(31)):11486-11492 doi:10.12998/wjcc.v10.i31.11486.
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Comparison of glucagon stimulation test and low dose ACTH test in assessing hypothalamic-pituitary-adrenal (HPA) axis in children.
Yalovitsky G, Shaki D, Hershkovitz E, et al.
Clinical endocrinology 2023; (98(5)):678-681 doi:10.1111/cen.14887.
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Emergency and perioperative management of adrenal insufficiency in children and young people: British Society for Paediatric Endocrinology and Diabetes consensus guidance.
Mushtaq T, Ali SR, Boulos N, et al.
Archives of disease in childhood 2023; (108(11)):871-878 doi:10.1136/archdischild-2022-325156.
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Abnormal thyroid function: an unusual presentation of pituitary stalk interruption syndrome.
Steen EA, Patterson ME, Rivera-Vega M, Phillips SA
Endocrinology, diabetes & metabolism case reports 2023; (2023(2)).
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Dorsoventral splitting of the infundibulum in a child with pituitary hypoplasia.
Welby JP, Madhavan AA, Campeau NG, et al.
Radiology case reports 2023; (18(8)):2754-2757 doi:10.1016/j.radcr.2023.05.038.
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The clinical aspects of septo-optic dysplasia: A narrative review with illustrative case report.
Al-Salihi MM, Qassim T, Aji N, et al.
International journal of surgery case reports 2023; (109()):108575 doi:10.1016/j.ijscr.2023.108575.
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Clinical Characteristics of Children with Combined Pituitary Hormone Deficiency and the Effects of Growth Hormone Treatment.
Besci Ö, Sevim RD, Acinikli KY, et al.
Klinische Padiatrie 2025; (237(1)):11-20 doi:10.1055/a-2186-9304.
PMID: 38049102 - 77
[Long-term follow-up data of patients with Multiple Pituitary Hormone Deficiency].
Elvan-Tuz A, Bayramoglu E, Cetinkaya S
Andes pediatrica : revista Chilena de pediatria 2023; (94(6)):689-697 doi:10.32641/andespediatr.v94i6.4680.
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Progress, challenges and perspectives in the management of hypopituitarism.
Boguszewski CL, Neggers S
Reviews in endocrine & metabolic disorders 2024; (25(3)):453-455 doi:10.1007/s11154-024-09889-7.
PMID: 38801648 - 79
Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.
Lee Y, Lee YA, Ko JM, et al.
Annals of pediatric endocrinology & metabolism 2024; (29(6)):379-386 doi:10.6065/apem.2448008.004.
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Two Cases of Late Diagnosis Pituitary Stalk Interruption Syndrome and Literature Review.
Alkhalifa M, Alsalman Z, Al Elq A, et al.
International medical case reports journal 2025; (18()):345-354 doi:10.2147/IMCRJ.S507989.
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Identification of POU1F1 Variants in Vietnamese Patients with Combined Pituitary Hormone Deficiency.
Nguyen HT, Nguyen KN, Dien TM, et al.
International journal of molecular sciences 2025; (26(6)) doi:10.3390/ijms26062406.
PMID: 40141050 - 82
A Novel Missense Variant in LHX4 in Three Children with Multiple Pituitary Hormone Deficiency Belonging to Two Unrelated Families and Contribution of Additional GLI2 and IGFR1 Variant.
Santoro C, Aiello F, Farina A, et al.
Children (Basel, Switzerland) 2025; (12(3)) doi:10.3390/children12030364.
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Hypopituitarism Accompanied with Delusion: The Effects of Growth Hormone Replacement Therapy.
Yamagata S, Sato K, Tasso M, et al.
Internal medicine (Tokyo, Japan) 2026; (65(6)):846-851 doi:10.2169/internalmedicine.5932-25.
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A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene.
Yuan X, Chu S, Gu W
BMC pediatrics 2025; (25(1)):878 doi:10.1186/s12887-025-06135-0.
PMID: 41152794 - 85
Management of hypopituitarism during pregnancy in patients with PROP1-related combined pituitary hormone deficiency: Review of the literature with a case report.
Pigni S, Marsan G, Caputo M, et al.
Pituitary 2025; (29(1)):7.
PMID: 41359080