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Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole.

ABSTRACT: Myhre syndrome is a rare disorder caused by a heterozygous mutation in the SMAD4 gene. Affected patients may exhibit dysmorphic facial features, intrauterine growth retardation, short stature, obesity, muscle hypertrophy, thickened skin, limited joint movement, hearing impairment, and varying degrees of psychomotor developmental disorder. Serious complications of the cardiovascular and respiratory system may be seen later in life. We report the case of a Chinese boy with Myhre syndrome presenting with a novel symptom of giant testicles where treatment with growth hormone combined with letrozole successfully improved his short stature. This case shows that letrozole combined with growth hormone can improve height in children with Myhre syndrome without adverse effects.

SUBMITTER: Wu H

PROVIDER: S-EPMC8360501 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Case Report: Improved Height in a Patient With Myhre Syndrome Using a Combination of Growth Hormone and Letrozole.

Wu Hui H Wang Xinli X Cui Yunpu Y Wang Xuemei X

Frontiers in pediatrics 20210729

Myhre syndrome is a rare disorder caused by a heterozygous mutation in the <i>SMAD4</i> gene. Affected patients may exhibit dysmorphic facial features, intrauterine growth retardation, short stature, obesity, muscle hypertrophy, thickened skin, limited joint movement, hearing impairment, and varying degrees of psychomotor developmental disorder. Serious complications of the cardiovascular and respiratory system may be seen later in life. We report the case of a Chinese boy with Myhre syndrome pr ...[more]

PMID: 34395338

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First documented case of Myhre syndrome in Romania: A case report.

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Myhre syndrome: the first case in Korea.

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SMAD4 mutations causing Myhre syndrome result in disorganization of extracellular matrix improved by losartan.

Project description:Myhre syndrome (MS, MIM 139210) is a connective tissue disorder that presents with short stature, short hands and feet, facial dysmorphic features, muscle hypertrophy, thickened skin, and deafness. Recurrent missense mutations in SMAD4 encoding for a transducer mediating transforming growth factor β (TGF-β) signaling are responsible for MS. We found that MS fibroblasts showed increased SMAD4 protein levels, impaired matrix deposition, and altered expression of genes encoding matrix metalloproteinases and related inhibitors. Increased TGF-β signaling and progression of aortic root dilation in Marfan syndrome can be prevented by the antihypertensive drug losartan, a TGF-β antagonists and angiotensin-II type 1 receptor blocker. Herein, we showed that losartan normalizes metalloproteinase and related inhibitor transcript levels and corrects the extracellular matrix deposition defect in fibroblasts from MS patients. The results of this study may pave the way toward therapeutic applications of losartan in MS.

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Natural history of Myhre syndrome.

Project description:BackgroundMyhre syndrome (MS) is a rare genetic disease characterized by skeletal disorders, facial features and joint limitation, caused by a gain of function mutation in SMAD4 gene. The natural history of MS remains incompletely understood.MethodsWe recruited in a longitudinal retrospective study patients with molecular confirmed MS from the French reference center for rare skeletal dysplasia. We described natural history by chaining data from medical reports, clinical data warehouse, medical imaging and photographies.ResultsWe included 12 patients. The median age was 22 years old (y/o). Intrauterine and postnatal growth retardation were consistently reported. In preschool age, neurodevelopment disorders were reported in 80% of children. Specifics facial and skeletal features, thickened skin and joint limitation occured mainly in school age children. The adolescence was marked by the occurrence of pulmonary arterial hypertension (PAH) and vascular stenosis. We reported for the first time recurrent strokes from the age of 26 y/o, caused by a moyamoya syndrome in one patient. Two patients died at late adolescence and in their 20 s respectively from PAH crises and mesenteric ischemia.ConclusionMyhre syndrome is a progressive disease with severe multisystemic impairement and life-threathning complication requiring multidisciplinary monitoring.

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Combination between Dunbar Syndrome and May–Thurner Syndrome: A Rare Case Report

Project description: Not available

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Durable and Drastic Response to the Trastuzumab, Letrozole, Abemaciclib, and Goserelin Combination as First-Line Therapy in HER2-Positive and Hormone Receptor-Positive Metastatic Breast Cancer: A Case Report.

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Patient with hormone receptor‑positive Her2‑negative metastatic breast cancer with visceral crisis with good response to abemaciclib and letrozole: A case report and review of the literature.

Project description:Combined chemotherapy is typically the preferred treatment for patients with hormone receptor-positive (HR+)/human epidermal growth factor receptor 2-negative (HER2-) metastatic breast cancer (MBC) experiencing a visceral crisis. However, the emergence of cyclin-dependent kinase 4/6 inhibitors (CDK4/6i) has introduced a potential alternative: The combination of CDK4/6i with endocrine therapy (ET). The present study reported a case of HR+/HER2-MBC with extensive liver and bone metastases who responded well to abemaciclib and letrozole. The patient achieved a rapid partial response and continuous clinical stabilization and the progression-free survival of this patient reaches 30 months and counting. Furthermore, the side effects were manageable and no dose reductions were necessary during treatment. These findings suggest that the combination of CDK4/6i and ET in the treatment of HR+/HER2-advanced breast cancer cannot be underestimated.

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