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Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad

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Abstract

Purpose

The current study aimed to report cases of McCune Albright syndrome (MAS) with growth hormone (GH) hyper secretion along with a systematic review of literature to elucidate challenges and intricacies in its diagnosis and management.

Methods

It was a single centre study carried out in individuals with MAS and autonomous GH secretion (AGHS). In addition, a systematic search of literature across three databases (PubMed, Scopus and EMBASE) was performed from inception until May 31, 2021 to identify cases of MAS with AGHS in the pediatric age group (<18 years).

Results

Three cases from authors centre and 42 cases identified from systematic literature review were analysed. Precocious puberty was the most common presenting endocrinopathy seen in 56.8% (25/44) cases, followed by hyperthyroidism (10/45), hypophosphatemia (4/45), and hypercortisolism (2/45). Cranio-facial fibrous dysplasia (CFFD) was seen in all while polyostotic fibrous dysplasia and Café au lait macule was seen in 40/45 (88.9%) and 35/45 (77.8%), respectively. Pituitary adenoma (58.3% microadenoma) was localized in 53.3% (24/45) cases on pituitary imaging. Biochemical and clinical remission of AGHS was achieved in 61.5% (24/45) cases with medical therapy.

Conclusion

Diagnosing AGHS in MAS is challenging because of concomitant presence of CFFD, non-GH endocrinopathies associated height spurt and elevated serum IGF-1. GH-GTT should be performed in presence of elevated growth velocity and serum IGF-1 (>1 X ULN) despite adequate control of non-GH endocrinopathies. Medical management can lead to disease control in substantial number of cases and often entails use of multiple agents.

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Authors and Affiliations

  1. Department of Medicine, Gajra Raja Medical College, Gwalior, MP, India

    Satyam Singh Jayant

  2. Department of Endocrinology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Rama Walia, Rahul Gupta, Rimesh Pal, Shakun Chaudhary, Kanhaiya Agrawal, Ashu Rastogi, Pinaki Dutta, Sanjay Kumar Bhadada & Anil Bhansali

  3. Department of Nuclear medicine, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

    Anish Bhattacharya

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  1. Satyam Singh Jayant
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Contributions

S.S.J. collected data, reviewed literature and wrote the manuscript, R.P. review and editied manuscript, R.W. was involved in study design, review/edited manuscript and patients management, R.G., S.C., K.A., A.R., S.K.B., A.B.1 were involved in patients management and editied manuscript. A.B.2 was involved in nuclear bone scan and reporting.

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Correspondence to Rama Walia.

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Jayant, S.S., Walia, R., Gupta, R. et al. Autonomous growth hormone secretion due to McCune Albright syndrome in paediatric age group: an ominous triad. Endocrine 81, 149–159 (2023). https://doi.org/10.1007/s12020-023-03333-7

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  • DOI: https://doi.org/10.1007/s12020-023-03333-7

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