McCune-Albright syndrome: the view of an obstetrician-gynecologist and a medical geneticist
Smirnova A.V., Fetisova I.N., Malyshkina A.I., Ovchinnikova I.Ya.
Background: McCune–Albright syndrome (MAS) is a rare genetic disease characterized by a triad of symptoms: fibrous bone dysplasia, the presence of pigmented skin lesions café-au-lait macules and hyperfunctioning endocrinopathies. This disease is caused by activating somatic mutations of the imprinted GNAS gene (guanine-binding nucleotide-polypeptide with alpha-stimulating activity), which encodes the alpha subunit of G proteins. Patients with this condition are common in clinical practice, especially in pediatric gynecology, since this pathology is frequently diagnosed in connection with premature puberty.
Case report: The article presents a clinical observation of a 22-year-old patient with MAS who came for an outpatient appointment. The diagnosis of MAS was made at the age of 4.5 years due to the presence of menstrual-like bloody discharge from the genital tract, breast engorgement, hormone-producing cyst of the right ovary, multinodular thyrotoxic goiter. The patient was treated with fulvestrant and thiamazole. Thyroidectomy was performed and thyroid hormone therapy prescribed at the age of 8.8 years due to progression of thyrotoxicosis. A pathological fracture of the neck of the right femur required osteosynthesis at the age of 10.5 years. A regular menstrual cycle started at the age of 11. Due to an enlarged cyst in the right ovary, she had the cyst enucleated at the age of 13, but there was a relapse and the menstrual cycle became irregular. The patient was treated symptomatically with progestogens and combined oral contraceptives. Worldwide experience in treating this syndrome was analyzed.
Conclusion: MAS syndrome is a complex orphan genetic disorder with underlying endocrinopathy and osteodystrophy associated with a somatic mutation in the GNAS gene. To date, no specific prophylaxis or therapy for this disease has been developed on a global scale. All treatment is basically limited to the prescription of symptomatic, substitution and antihormonal therapies that impact the pathogenic mechanisms underlying the disease process.
Authors’ contributions: Smirnova A.V., Ovchinnikova I.Ya. – developing the concept and design of the study, collecting and processing the material; Smirnova A.V., Fetisova I.N. – writing the text; Malyshkina A.I. – editing the article.
Conflicts of interest: The authors declare that they have no conflicts of interest.
Funding: The study was conducted without sponsorship.
Patient Consent for Publication: The patient provided an informed consent for the publication of her data.
For citation: Smirnova A.V., Fetisova I.N., Malyshkina A.I., Ovchinnikova I.Ya. McCune–Albright syndrome:
the view of an obstetrician-gynecologist and a medical geneticist.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (11): 222-228 (in Russian)
https://dx.doi.org/10.18565/aig.2024.159
Keywords
McCune–Albright syndrome
café-au-lait macules
fibrous dysplasia of bone
premature puberty
GNAS gene
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Received 08.07.2024
Accepted 29.07.2024
About the Authors
Anastasia V. Smirnova, PhD, Associate Professor at the Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University, Ministry of Health of Russia; gynecologist, Ivanovo Scientific Research Institute of Maternity and Childhood named after V.N. Gorodkov, +7(4932)35-16-09, +7(920)344-38-30,anguseva@yandex.ru, eLibrary SPIN: 1871-4605, https://orcid.org/0000-0002-6811-6830
Irina N. Fetisova, Dr. Med. Sci., Leading Researcher at the Laboratory of Clinical Biochemistry and Genetics, Ivanovo Scientific Research Institute of Maternity and Childhood named after V.N. Gorodkov; Professor at the Department of Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University, Ministry of Health of Russia, ivgenlab@gmail.com, https://orcid.org/0000-0002-5769-1645
Anna I. Malyshkina, Dr. Med. Sci., Professor, Director, Ivanovo Scientific Research Institute of Maternity and Childhood named after V.N. Gorodkov; Head of the Department of Department of Obstetrics, Gynecology and Medical Genetics, Ivanovo State Medical University, Ministry of Health of Russia, +7(4932)35-16-09,
https://orcid.org/0000-0002-1145-0563
Irina Ya. Ovchinnikova, 5th year student, Ivanovo State Medical University, Ministry of Health of the Russia, https://orcid.org/0009-0001-1078-3710
Corresponding author: Anastasia V. Smirnova, anguseva@yandex.ru
