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Endocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine ParaThyroid Center, Norman, Oklahoma.
Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.
View Article and Find Full Text PDFUnmasking a Rare Genetic Mutation: The Importance of Genetic Testing in Refractory Hypertriglyceridemia.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine Associates of West Village, New York City, New York.
Background/objective: Genetic causes of hypertriglyceridemia like familial chylomicronemia syndrome can be overlooked in everyday practice. We report a patient with a rare genetic mutation, highlighting the importance of genetic testing for timely diagnosis and prevention of complications.
Case Report: A 45-year-old Hispanic female presented with serum triglyceride levels of 749 mg/dL, refractory to rosuvastatin 10 mg daily and omega-3 ethyl esters 2 g daily.
Editorial: Rare forms of pediatric adrenal disorders: beyond congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Front Endocrinol (Lausanne)
December 2024
Centre for Endocrinology, William Harvey Research Institute, Barts & the London School of Medicine & Dentistry, Queen Mary, University of London, London, United Kingdom.
Genotype-negative multiple endocrine neoplasia type 1 with prolactinoma, hyperparathyroidism, and subclinical Cushing's syndrome accompanied by hyperglycemia: a case report.
Front Endocrinol (Lausanne)
December 2024
Diabetes Center, Ohta Nishinouchi Hospital, Koriyama, Fukushima, Japan.
Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder, accompanied by multiple endocrine neoplasms of the parathyroid, pancreas, pituitary, and other neoplasms in the adrenal glands. However, in some cases, patients clinically diagnosed with MEN1 may be genotype-negative.
Case Presentation: A 56-year-old female was diagnosed with MEN1 based on a macroprolactinoma (19 mm in diameter), primary hyperparathyroidism, and a cortisol-producing adrenal adenoma, without a family history.
Pyoderma gangrenosum of the breast: a rare but significant cause of breast ulceration.
ANZ J Surg
December 2024
Breast & Endocrine Surgical Unit, Royal Adelaide Hospital, Port Road, Adelaide, South Australia, 5000, Australia.
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