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Pituitary Disorders Affecting Linear Growth: Tall Stature

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Pituitary Disorders throughout the Life Cycle

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Abstract

Growth hormone (GH) excess secondary to a pituitary adenoma may lead to gigantism in children and adolescents. Most pituitary tumors occur sporadically; however, in about half of the cases with pituitary gigantism, the disease develops due to genetic alterations, such as mosaic or germline mutations in the aryl hydrocarbon receptor–interacting protein (AIP), GPR101, guanine nucleotide–binding protein, alpha-stimulating (GNAS), PRKAC1A, MEN1 cyclin-dependent kinase inhibitor 1B (CDKN1B), and MAX genes. Patients with optic gliomas associated with neurofibromatosis type 1 (NF1) may also have GH excess and tall stature. The most common genetic cause for pituitary gigantism, in one-third of cases, is a mutation in the AIP gene. Clinically, AIP mutation–positive patients often present macroadenomas with suprasellar and extrasellar extension. The management is frequently challenging, since patients may require multimodal treatment; nonetheless, with combination treatment, further excessive height gain can be avoided and long-term complications reduced.

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Abbreviations

AIP:

Aryl hydrocarbon receptor–interacting protein

CDH23:

Cadherin-related 23

CDKN1B:

Cyclin-dependent kinase inhibitor 1B

CNC:

Carney complex

FIPA:

Familial isolated pituitary adenomas

GH:

Growth hormone

GHRH:

Growth hormone–releasing hormone

GNAS:

Guanine nucleotide–binding protein, alpha stimulating

GPR101:

G protein–coupled receptor 101

IGF-1:

Insulin-like growth factor-1

IGSF1:

X-linked immunoglobulin superfamily, member 1

MAS:

McCune–Albright syndrome

MAX:

MYC-associated factor X

MEN1:

Multiple endocrine neoplasia type 1

MEN4:

Multiple endocrine neoplasia type 4

MRI:

Magnetic resonance imaging

NF1:

Neurofibromatosis type 1

OGTT:

Oral glucose tolerance test

PitNET:

Pituitary neuroendocrine tumor

PRKAR1A:

Protein kinase CAMP-dependent type I regulatory subunit alpha

SDHx:

Succinate dehydrogenase complex genes (SDHA, SDHB, SDHC, SDHD, SDHAF2)

SSA:

Somatostatin analog

X-LAG:

X-linked acrogigantism syndrome

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Acknowledgments

We are grateful to Professor Ashley Grossman for the review of this manuscript.

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Authors and Affiliations

  1. University of Medicine, Pharmacy, Science, and Technology of Târgu Mureș, Târgu Mureș, Romania

    Gabriela Mihai

  2. Center for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK

    Márta Korbonits

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Correspondence to Márta Korbonits .

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  1. Mayo Clinic, Jacksonville, FL, USA

    Susan L. Samson

  2. Emory University School of Medicine, Atlanta, GA, USA

    Adriana G. Ioachimescu

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Mihai, G., Korbonits, M. (2022). Pituitary Disorders Affecting Linear Growth: Tall Stature. In: Samson, S.L., Ioachimescu, A.G. (eds) Pituitary Disorders throughout the Life Cycle. Springer, Cham. https://doi.org/10.1007/978-3-030-99918-6_2

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