تقرير
Case Report: Severe McCune-Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles.
| العنوان: | Case Report: Severe McCune-Albright syndrome presenting with neonatal Cushing syndrome: navigating through clinical obstacles. |
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| المؤلفون: | Unsal Y; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gozmen O; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., User İR; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Hızarcıoglu H; Department of Pediatrics, Division of Pediatric Gastroenterology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gulhan B; Department of Pediatrics, Division of Pediatric Nephrology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Ekinci S; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Karagoz T; Department of Pediatrics, Division of Pediatric Cardiology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Ozon ZA; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye., Gonc EN; Department of Pediatrics, Division of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye. |
| المصدر: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Jul 25; Vol. 14, pp. 1209189. Date of Electronic Publication: 2023 Jul 25 (Print Publication: 2023). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Lausanne : Frontiers Research Foundation] |
| مواضيع طبية MeSH: | Fibrous Dysplasia, Polyostotic*/complications , Fibrous Dysplasia, Polyostotic*/diagnosis , Fibrous Dysplasia, Polyostotic*/drug therapy , Cafe-au-Lait Spots* , Cushing Syndrome*/diagnosis , Cushing Syndrome*/drug therapy, Infant, Small for Gestational Age ; Humans ; Female ; Infant, Newborn ; Adrenocorticotropic Hormone/therapeutic use ; Hydrocortisone/therapeutic use |
| مستخلص: | Background: Café-au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, and liver and cardiac dysfunction are presenting features of neonatal McCune-Albright syndrome (MAS), CS being the rarest endocrine feature. Although spontaneous resolution of hypercortisolism has been reported, outcome is usually unfavorable. While a unified approach to diagnosis, treatment, and follow-up is lacking, herein successful treatment and long-term follow-up of a rare case is presented. Clinical Case: An 11-day-old girl born small for gestational age presented with deterioration of well-being and weight loss. Large hyperpigmented macules on the trunk, hypertension, hyponatremia, hyperglycemia, and elevated liver enzymes were noted. ACTH-independent CS due to MAS was diagnosed. Although metyrapone (300 mg/m 2 /day) was started on the 25th day, complete remission could not be achieved despite increasing the dose up to 1,850 mg/m 2 /day. At 9 months, right total and left three-quarters adrenalectomy was performed. Cortisol decreased substantially, ACTH remained suppressed, rapid tapering of hydrocortisone to physiological dose was not tolerated, and supraphysiological doses were required for 2 months. GNAS analysis from the adrenal tissue showed a pathogenic heterozygous mutation. During 34 months of follow-up, in addition to CS due to MAS, fibrous dysplasia, hypophosphatemic rickets, and peripheral precocious puberty were detected. She is still regularly screened for other endocrinopathies. Conclusion: Neonatal CS due to MAS is extremely rare. Although there is no specific guideline for diagnosis, treatment, or follow-up, addressing side effects and identifying treatment outcomes will improve quality of life and survival. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Unsal, Gozmen, User, Hızarcıoglu, Gulhan, Ekinci, Karagoz, Ozon and Gonc.) |
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| فهرسة مساهمة: | Keywords: McCune Albright syndrome; adrenalectomy; follow-up; metyrapone; neonatal Cushing syndrome |
| المشرفين على المادة: | 9002-60-2 (Adrenocorticotropic Hormone) WI4X0X7BPJ (Hydrocortisone) |
| تواريخ الأحداث: | Date Created: 20230810 Date Completed: 20230820 Latest Revision: 20230820 |
| رمز التحديث: | 20230821 |
| مُعرف محوري في PubMed: | PMC10407558 |
| DOI: | 10.3389/fendo.2023.1209189 |
| PMID: | 37560302 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1664-2392 |
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| DOI: | 10.3389/fendo.2023.1209189 |