Rare Endocrinology News

Disease Profile

Lymphocytic hypophysitis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

LYH; LH; Autoimmune hypophysitis

Categories

Immune System Diseases

Summary

Lymphocytic hypophysitis (LH) is a condition in which the pituitary gland becomes infiltrated by lymphocytes, resulting in pituitary enlargement and impaired function.[1][2] It most often occurs in women in late pregnancy or the postpartum period, but can also occur in prepubertal or post-menopausal women, and in men.[1][2] Symptoms of LH may include headache, visual field impairment and more rarely, double vision (diplopia).[1] The exact cause is unknown but is thought to be autoimmune-related.[2][1] Although some cases resolve on their own or after a short course of steroids, other cases cause persistent problems even with aggressive medical or surgical treatment.[3]

Symptoms

Individuals affected with lymphocytic hypophysitis typically have headaches as their first symptom.[2][1] This usually precedes or occurs with visual field impairment; rarely, double vision (diplopia) may be present.[1] Hyperprolactinemia affects approximately one third of individuals, causing amenorrhea (absence of menstruation) or galactorrhea (production of breast milk) in women and sexual dysfunction in men.[1]

Other features that occur more rarely and are related to alterations in pituitary secretions may include:[1]

Cause

The exact cause of lymphocytic hypophysitis (LH) is still under debate and remains unclear. It has been suggested that LH has an autoimmune etiology. This has generally been supported by the frequent postpartum occurrence and the lymphocytic infiltration, as well as several histopathological, laboratory and clinical findings.[1][2]

Treatment

Lymphocytic hypophysitis can evolve differently among affected individuals, so different treatment strategies may be required. Some individuals experience spontaneous remission (improvement or reversal of the condition without any formal treatment). Careful follow-up is typically recommended.[1]

Many affected individuals only have headaches as a manifesting symptom, and there have been multiple reports of these individuals improving with glucocorticoids alone.[4] Although the use of glucocorticoids or other anti-inflammatory and immunosuppressive drugs have been suggested as medical treatment, their long-term efficacy still needs to be confirmed. High-dose methylprednisolone pulse therapy (short, intensive administration given at set intervals) seems to be effective in about 30% of treated patients.[1]

Transsphenoidal surgery (accessed "through the nose") to confirm diagnosis and save viable pituitary tissue may be required in individuals with symptoms or signs of severe compression.[1] Visual improvement following decompression with this type of surgery has been reported.[4] In some cases, pituitary biopsy is both diagnostic and therapeutic, because after this procedure a progressive recovery of pituitary function may occur.[1]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Lymphocytic hypophysitis. Click on the link to view a sample search on this topic.

      References

      1. Antonio Bellastella, Antonio Bizzarro, Concetta Coronella, Giuseppe Bellastella, Antonio Agostino Sinisi and Annamaria De Bellis. Lymphocytic hypophysitis: a rare or underestimated disease?. European Journal of Endocrinology. 2003; 149:363-376.
      2. Peter J Snyder, MD. Causes of Hypopituitarism. UpToDate. Waltham, MA: UpToDate; 2012;
      3. Schreckinger M, Francis T, Rajah G, Jagannathan J, Guthikonda M, Mittal S. Novel strategy to treat a case of recurrent lymphocytic hypophysitis using rituximab. J Neurosurg. June 2012;
      4. Bernard Corenblum. Pituitary Disease and Pregnancy. Medscape Reference. July 6, 2011; https://emedicine.medscape.com/article/127650-overview#a30. Accessed 10/1/2012.

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