McCune Albright syndromeis a rare disorder that presents with multiple endocrine abnormalities. We report the case of a 24-year-old woman who presented with right lower limb pain, with no preceding trauma or fracture. On examination she was noted to have coarsened facial features, acral enlargement, bitemporal hemianopia, galactorrhoea and multiple café-au-lait macules. She gave history of precocious puberty, having attained menarche at 7 years of age. Biochemical investigations revealed hyperprolactinaemia, with unsuppressed growth hormone levels following a glucose load and subclinical hyperthyroidism. Technetium-99m methylene diphosphonate bone scan showed polyostotic fibrous dysplasia, MRI of the brain showed a pituitary macroadenoma. Thus she was diagnosed to have McCune Albright syndrome with multiple endocrine manifestations. She was treated with parenteral zoledronate for her bony lesions and initiated on cabergoline for plurihormonal pituitary macroadenoma. She is planned to be on close follow-up to assess for clinical improvement and appearance of other manifestations.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6663252 | PMC |
http://dx.doi.org/10.1136/bcr-2018-229141 | DOI Listing |
F S Rep
December 2024
Department of Obstetrics and Gynaecology, University of Ottawa, Ottawa, Ontario, Canada.
Objective: To report a patient with McCune-Albright syndrome (MAS) with bilateral ovarian involvement who had achieved a pregnancy through in vitro fertilization (IVF).
Design: Case report.
Setting: Academic fertility center.
Calcif Tissue Int
January 2025
Rheumatology department, Hôpital E. Herriot, Lyon, France.
This study explores FD/MAS patient's perceptions about their disease and its impact on their quality of life. We have evaluated quality of life (QoL) in French Fibrous Dysplasia/MacCune-Albright Syndrome (FD/MAS) patients using a qualitative approach with focus groups to explore perceptions, symptoms and limitations associated with FD/MAS and a quantitative method with the Short Form-36 (SF36) to quantify QoL. Focus groups revealed the heterogeneity of FD forms and allowed for understanding the reasons of reduced QoL.
View Article and Find Full Text PDFJ Oral Maxillofac Surg
December 2024
Assistant Professor, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA; Assistant Professor, Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA. Electronic address:
Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a genetic disorder, marked by bone lesions, often affecting the craniofacial skeleton. Pain is a prevalent yet heterogeneous symptom reported by patients with craniofacial FD. Effective treatments are currently lacking, posing a significant clinical challenge to patient care.
View Article and Find Full Text PDFEur J Endocrinol
November 2024
Department of Pediatric Surgery and Urology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149 Rue de Sèvres, 75015 Paris, France.
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
View Article and Find Full Text PDFCureus
November 2024
Internal Medicine, Sir Seewoosagur Ramgoolam National Hospital, Pamplemousses, MUS.
McCune-Albright syndrome (MAS) is a rare genetic disease characterized by a triad of fibrous dysplasia, café-au-lait spots, and endocrine dysfunction. We present a 15-year-old male patient from Mauritius with MAS having multiple café-au-lait macules (CALM) and suffering from polyostotic fibrous dysplasia involving long bones of bilateral lower limbs and craniofacial deformities without endocrine abnormality. This case highlights the long-term management of MAS in a pediatric patient, focusing on both surgical interventions and the use of denosumab to address bone fragility.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!