McCune-Albright Syndrome in Infant with Growth Hormone Excess

Brzica, Katarina; Šimunović, Marko; Ivancic, Matea; Tudor, Darija; Skrabic, Ivna; Škrabić, Veselin

doi:10.3390/genes13081345

Cited by 6 publications

(6 citation statements)

References 36 publications

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“…Café-au-lait spots are seen in 53-95% of MAS cases with the Several other endocrinopathies and other tissue involvement have been reported in the literature. 1,7 Hyperthyroidism was present in our patient. Hyperthyroidism is common in 10%-30% of MAS patients.…”

Section: Discussionmentioning

confidence: 46%

“…Multiple endocrinopathies, early puberty, polyostotic fibrous dysplasia, which causes deformities and pain in the legs, spine, and face, and skin alterations in the form of café au lait macules are all signs of McCune-Albright Syndrome. 1 Although complete information on the prevalence of MAS is not yet known, it is estimated that it affects between 1/100,000 and 1/1,000,000 worldwide. Contrarily, information on skeletal abnormalities brought on by MAS in the form of fibrous dysplasia has been widely published; it is estimated that this condition accounts for more than 7% of benign bone tumor cases.…”

Section: Introductionmentioning

confidence: 99%

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McCune-Albright Syndrome: A-rare-case report

Yunita¹,

Artati²,

Satriono³

et al. 2022

GMJ

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McCune-Albright syndrome (MAS) is a rare genetic disordered originally recognized by the triad of polyostotic fibrous dysplasia, precocious puberty, and cafe-au-late spots. We report a case of 2 years-11-month-old girl who came with complaints of menstruation 5 days ago. Breasts appear enlarged. On physical examination, it appears that the café au lait region of the abdomen and left femur resembles the "coast of Maine". There was an increase in the levels of FT4, estradiol, and alkaline phosphatase, and low TSHs, LH, and FSH levels. The radiological examination of the bones of the left hand corresponded to the bone age of 6 years. Bone survey photo showing multiple lytic and blastic lesions in the proximal 1/3 of the left femur. We are monitoring this patient, and planning to administer Tamoxifen and Zoledronic acid. Tamoxifen (an estrogen agonist/antagonist) or Letrozole (an aromatase inhibitor) have been used for the management of precocious puberty and rapid bone maturation. Despite differing in presentation, all patients with precocious puberty were successfully treated with Tamoxifen and/or Letrozole, to emphasize the significant progress of bone age. A systematic approach to diagnosis and management is essential to optimize outcomes for patients with MAS, especially with fibrous dysplasia. No medical therapy is able to change the course of the disease in fibrous dysplasia. However, screening and treatment for endocrinopathy can reduce some bone morbidities.

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Section: Discussionmentioning

confidence: 46%

Section: Introductionmentioning

confidence: 99%

McCune-Albright Syndrome: A-rare-case report

Yunita¹,

Artati²,

Satriono³

et al. 2022

GMJ

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“…It has been found that tissue samples with FD produce elevated basal levels of IL-6, a cytokine that mediates osteoclastogenesis, causing increased bone resorption in the affected bone [4][5][6]. The endocrine pathways in which the signaling of their hormones and receptor proteins are ligand-dependent, such as LH, FSH, TSH, GHRH and ACTH, show hyperfunction, resulting in the characteristic endocrinological alterations of the syndrome [7][8].…”

Section: Etiology and Pathophysiologymentioning

confidence: 99%

Mccune Albright Syndorme/Craniofacial Fibrous Dysplasia And Postcraniectomy Syndrome: Case Report And Literature Review

Tovar¹,

Rodriguez²,

Valencia³

et al. 2023

ACMR

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“…The endocrine pathways in which the signaling of their hormones and receptor proteins are ligand-dependent, such as LH, FSH, TSH, GHRH and ACTH, show hyperfunction, resulting in the characteristic endocrinological alterations of the syndrome [7,8].…”

Section: Etiology and Pathophysiologymentioning

confidence: 99%

Mccune Albright Syndrome/Craniofacial Fibrous Dysplasia and Postcraniectomy Syndrome: Case Report and Literature Review

Rodríguez¹

2022

Arch Clin Trial & Case Rep.

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Introduction: McCune Albright syndrome (MAS) is a rare pathology caused by a genetic mutation of the GNAS1 gene that causes fibrous dysplasia (FD) among other endocrinological and metabolic manifestations (1). Here is presented a case report, in which craniofacial dysplasia (CFFD) produces functional alteration, its treatment, and the management of underlying complications. Case report: A 10-year-old female patient who presented with CFD with progressive involvement of the orbital cavity, compression of the optic nerve and right oculomotor cranial nerves, associated with precocious puberty and the appearance of ‘’café-au-lait’’ spots on the skin and finally, the diagnosis of MAS is made. Right front-parieto-temporal craniectomy and intracanalicular decompression of the optic nerve was performed getting partial improvement of functional alteration. Subsequently, cranioplasty is performed to manage postcraniectomy/trephined syndrome. Discussion: MAS is a genetic postzygotic disease that occurs in early stages of embryonic development, which explains its mosaicism. Among its manifestation is FD, which is explained by the hyperfunctioning nature of the mutation. In the case of DCF, continuous surveillance is required by a multidisciplinary team that includes a neurosurgeon, whose intervention is reserved for cases in which functional alterations occur, following the recommendations given by medical literature regarding the approach and type of surgery. Decompressive craniectomy can be associated with complications such as postcraniectomy/trephined syndrome, which shows improvement or resolution with cranioplasty. Conclusion: The diagnosis of MAS is clinical, and its mosaicism is explained by its early presentation in embryonic development. In the case of FCD with functional compromise, neurosurgical intervention is required, seeking the recovery and preservation of the compromised cranial nerves, avoiding prophylactic decompressions. In case of complications such as postcraniectomy/trephination syndrome, timely cranioplasty should be performed as it turns out to be highly effective as a treatment, however, the need for studies aimed at its characterization and diagnosis arises.

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McCune-Albright Syndrome in Infant with Growth Hormone Excess

Cited by 6 publications

References 36 publications

McCune-Albright Syndrome: A-rare-case report

McCune-Albright Syndrome: A-rare-case report

Mccune Albright Syndorme/Craniofacial Fibrous Dysplasia And Postcraniectomy Syndrome: Case Report And Literature Review

Mccune Albright Syndrome/Craniofacial Fibrous Dysplasia and Postcraniectomy Syndrome: Case Report and Literature Review

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