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PubMed This is a summary of 20 peer-reviewed journal articles Updated
Endocrinology · Combined Pituitary Hormone Deficiency

Getting a Diagnosis: Understanding Blood Tests and MRIs

At a Glance

Diagnosing Combined Pituitary Hormone Deficiency (CPHD) involves blood tests to check baseline hormone levels, stimulation tests to measure the gland's response, and an MRI to look for structural issues like Pituitary Stalk Interruption Syndrome (PSIS).

The diagnostic process for Combined Pituitary Hormone Deficiency (CPHD) involves a combination of “looking” at the brain and “measuring” how well the pituitary gland is working. This process can take some time, but each test provides a vital piece of the puzzle.

Blood Tests and ‘Stimulation’ Tests

The first step is usually blood work to check your child’s baseline hormone levels. However, because some hormones are released in “bursts” throughout the day, a single blood draw might not tell the whole story [1][2].

  • Hormone Panels: Doctors will check levels for growth hormone (GH), thyroid (TSH/T4), adrenal (ACTH/Cortisol), and eventually sex hormones [3][4].
  • Stimulation (Provocation) Tests: To see if the pituitary can respond when “pushed,” doctors may perform a stimulation test. This involves giving a medication that should trigger the gland to release a hormone and then checking blood levels every 30–60 minutes for a few hours [1][5].
  • When tests may be skipped: If your child’s MRI clearly shows significant structural abnormalities AND they already have multiple other confirmed hormone deficiencies (like low thyroid and low cortisol), your doctor may decide that a stimulation test is unnecessary because the diagnosis is already clear [6][3][7].

Demystifying the MRI Report

An MRI is essential for seeing the “architecture” of the pituitary gland [8][9]. You may see these terms on your child’s report:

  • Hypoplastic Anterior Pituitary: This simply means the front part of the pituitary gland is smaller than expected [10][8].
  • Absent or Thin Pituitary Stalk: The “bridge” (stalk) that connects the brain to the gland is either missing or too thin to carry signals effectively [10][11].
  • Ectopic Posterior Pituitary: The back part of the gland is in the “wrong place,” usually higher up in the brain than it should be [10][8].

Together, these three findings are often called Pituitary Stalk Interruption Syndrome (PSIS) [10].

The ‘Completeness Checklist’

To ensure your child has a thorough evaluation, a complete diagnostic workup should ideally include:

  1. Comprehensive Blood Panel: Checking all pituitary axes (growth, thyroid, adrenal, and puberty hormones) [4][12].
  2. High-Resolution MRI: Specifically focusing on the “sellar region” where the pituitary sits [3][13].
  3. Vision Exam: Checking the optic nerves to rule out associated conditions like Septo-optic Dysplasia [14][15].
  4. Genetic Screening: Testing for common “blueprint” errors in genes like PROP1 or HESX1 to help predict how the condition might progress and to aid in future family planning [16][17].
  5. Long-term Monitoring Plan: Because CPHD is often progressive, your child will need regular follow-ups to check for new deficiencies that can appear over time [18][19][20].

Common questions in this guide

Does my child always need a growth hormone stimulation test?
Not always. If your child's MRI shows significant structural abnormalities and they already have multiple confirmed hormone deficiencies, your pediatric endocrinologist may decide a stimulation test is not necessary.
What is Pituitary Stalk Interruption Syndrome (PSIS)?
PSIS is a condition identified on an MRI by three specific findings: a smaller-than-expected anterior pituitary gland, a missing or very thin pituitary stalk, and a posterior pituitary gland located in the wrong place.
What does an ectopic posterior pituitary mean on an MRI?
Ectopic means 'in the wrong place.' An ectopic posterior pituitary indicates that the back part of the pituitary gland is located higher up in the brain than its normal position.
What happens during a pituitary stimulation test?
Because some hormones are released in bursts throughout the day, a single blood draw may not be accurate. Stimulation tests use medication to trigger hormone release, requiring doctors to check blood levels every 30 to 60 minutes over a few hours.
Why does my child need a vision exam for a pituitary issue?
A comprehensive vision exam checks the optic nerves. This helps doctors rule out or identify associated structural conditions that can happen alongside pituitary abnormalities, such as Septo-optic Dysplasia.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Does my child have the 'MRI triad' that indicates Pituitary Stalk Interruption Syndrome (PSIS)?
  2. 2.If my child already has two or more confirmed hormone deficiencies and structural changes on their MRI, do we still need a growth hormone stimulation test?
  3. 3.Are there any hormone levels that were 'borderline' and will need to be re-tested soon?
  4. 4.Which genetic test do you recommend first—a targeted panel or whole-exome sequencing?
  5. 5.How often will we need to repeat blood work to see if new deficiencies have developed?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (20)
  1. 1

    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.

    PMID: 35757429
  2. 2

    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.

    PMID: 36750758
  3. 3

    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
  4. 4

    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
  5. 5

    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.

    PMID: 33728673
  6. 6

    Clinical and laboratory parameters predicting a requirement for the reevaluation of growth hormone status during growth hormone treatment: Retesting early in the course of GH treatment.

    Vuralli D, Gonc EN, Ozon ZA, et al.

    Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2017; (34()):31-37 doi:10.1016/j.ghir.2017.05.003.

    PMID: 28511077
  7. 7

    Growth Hormone Deficiency in Children: From Suspecting to Diagnosing.

    Vyas V, Kumar A, Jain V

    Indian pediatrics 2017; (54(11)):955-960 doi:10.1007/s13312-017-1190-3.

    PMID: 29217803
  8. 8

    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.

    PMID: 37334326
  9. 9

    Mutations Within the Transcription Factor PROP1 in a Cohort of Turkish Patients with Combined Pituitary Hormone Deficiency

    Bulut FD, Özdemir Dilek S, Kotan D, et al.

    Journal of clinical research in pediatric endocrinology 2020; (12(3)):261-268 doi:10.4274/jcrpe.galenos.2020.2019.0191.

    PMID: 31948187
  10. 10

    Severe, persistent neonatal hypoglycemia as a presenting feature in patients with congenital hypopituitarism: a review of our case series.

    Mehta S, Brar PC

    Journal of pediatric endocrinology & metabolism : JPEM 2019; (32(7)):767-774.

    PMID: 31211689
  11. 11

    The Missing Link: A Case of Absent Pituitary Infundibulum and Ectopic Neurohypophysis in a Pediatric Patient with Heterotaxy Syndrome.

    Omer A, Haddad D, Pisinski L, Krauthamer AV

    Journal of radiology case reports 2017; (11(9)):28-34 doi:10.3941/jrcr.v11i9.3046.

    PMID: 29299107
  12. 12

    Hypopituitarism in children with cerebral palsy.

    Uday S, Shaw N, Krone R, Kirk J

    Archives of disease in childhood 2017; (102(6)):559-561 doi:10.1136/archdischild-2016-311012.

    PMID: 27789461
  13. 13

    Endocrine morbidity in midline brain defects: Differences between septo-optic dysplasia and related disorders.

    Cerbone M, Güemes M, Wade A, et al.

    EClinicalMedicine 2020; (19()):100224 doi:10.1016/j.eclinm.2019.11.017.

    PMID: 32140665
  14. 14

    Septo-optic dysplasia plus diagnosed in adulthood.

    Infante-Valenzuela A, Camara-Lemarroy CR, Reyes-Mondragon AL, et al.

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2017; (38(9)):1705-1707 doi:10.1007/s10072-017-2985-7.

    PMID: 28474147
  15. 15

    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.

    PMID: 33531961
  16. 16

    Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.

    Madeira JL, Nishi MY, Nakaguma M, et al.

    Clinical endocrinology 2017; (87(6)):725-732 doi:10.1111/cen.13430.

    PMID: 28734020
  17. 17

    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.

    PMID: 40150646
  18. 18

    Progression from isolated growth hormone deficiency to combined pituitary hormone deficiency.

    Cerbone M, Dattani MT

    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.

    PMID: 29107171
  19. 19

    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.

    PMID: 36136319
  20. 20

    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

This page explains CPHD diagnostic testing for educational purposes only. Always consult your pediatric endocrinologist to interpret your child's specific blood test and MRI results.

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