Neonatal McCune–Albright syndrome with survival beyond two years

Melinda Pierce, Brian Scottoline

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gsα subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty. After medical and surgical treatment, she remains the only reported survivor of neonatal MAS. This clinical report alerts clinicians to the possibility of this disease in neonates with non-classical endocrine and non-endocrine manifestations of MAS, and demonstrates that this very early presentation is potentially survivable.

Original languageEnglish (US)
Pages (from-to)3008-3012
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number11
DOIs
StatePublished - Nov 1 2016

Fingerprint

Survival
Precocious Puberty
Cushing Syndrome
Rare Diseases
G-Protein-Coupled Receptors
Adrenocorticotropic Hormone
Survivors
Heart Diseases
Newborn Infant
Mutation
Membranes
Therapeutics

Keywords

  • Cushing syndrome
  • intrauterine growth restriction
  • McCune–Albright syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Neonatal McCune–Albright syndrome with survival beyond two years. / Pierce, Melinda; Scottoline, Brian.

In: American Journal of Medical Genetics, Part A, Vol. 170, No. 11, 01.11.2016, p. 3008-3012.

Research output: Contribution to journalArticle

@article{869e2c65aa81445283e5164aea0a3d39,
title = "Neonatal McCune–Albright syndrome with survival beyond two years",
abstract = "McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gsα subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of caf{\'e}-au-lait macules, fibrous dysplasia, or peripheral precocious puberty. After medical and surgical treatment, she remains the only reported survivor of neonatal MAS. This clinical report alerts clinicians to the possibility of this disease in neonates with non-classical endocrine and non-endocrine manifestations of MAS, and demonstrates that this very early presentation is potentially survivable.",
keywords = "Cushing syndrome, intrauterine growth restriction, McCune–Albright syndrome",
author = "Melinda Pierce and Brian Scottoline",
year = "2016",
month = "11",
day = "1",
doi = "10.1002/ajmg.a.37841",
language = "English (US)",
volume = "170",
pages = "3008--3012",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "11",

}

TY - JOUR

T1 - Neonatal McCune–Albright syndrome with survival beyond two years

AU - Pierce, Melinda

AU - Scottoline, Brian

PY - 2016/11/1

Y1 - 2016/11/1

N2 - McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gsα subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty. After medical and surgical treatment, she remains the only reported survivor of neonatal MAS. This clinical report alerts clinicians to the possibility of this disease in neonates with non-classical endocrine and non-endocrine manifestations of MAS, and demonstrates that this very early presentation is potentially survivable.

AB - McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic, mosaic mutation of GNAS1 encoding the Gsα subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades. We present a patient with neonatal MAS who initially presented with neonatal diabetes and concern for congenital cardiac disease, and subsequently was found to have significant ACTH-independent neonatal Cushing syndrome. Her course included multi-system organ involvement, although she initially did not have obvious findings consistent with the MAS classic triad of café-au-lait macules, fibrous dysplasia, or peripheral precocious puberty. After medical and surgical treatment, she remains the only reported survivor of neonatal MAS. This clinical report alerts clinicians to the possibility of this disease in neonates with non-classical endocrine and non-endocrine manifestations of MAS, and demonstrates that this very early presentation is potentially survivable.

KW - Cushing syndrome

KW - intrauterine growth restriction

KW - McCune–Albright syndrome

UR - http://www.scopus.com/inward/record.url?scp=84991449367&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84991449367&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.37841

DO - 10.1002/ajmg.a.37841

M3 - Article

C2 - 27411099

AN - SCOPUS:84991449367

VL - 170

SP - 3008

EP - 3012

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 11

ER -