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Two sisters diagnosed with familial paraganglioma syndrome type 1 (FPGL1) and multiple endocrine neoplasia type 2A (MEN2A)
BackgroundIn clinical practice, genetic testing has become standard for many cancerous diseases. While a diagnosis of a single hereditary syndrome is...
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Familial multiple endocrine neoplasia type 1 with intrathoracic low-grade fibromyxoid sarcoma
BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a hereditary tumor syndrome characterized by endocrine tumors with mainly a parathyroid,...
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Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes
This review of the familial tumor syndromes involving the endocrine organs is focused on discussing the main updates on the upcoming fifth edition of...
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Incidentally Detected Pancreatic Tail Neuroendocrine Tumor Coexisting with a Right Adrenal Interaortocaval Pheochromocytoma in the Absence of Familial Syndrome
Synchronous occurrence of tumors in adrenal gland and pancreas is rare and is often considered as part of multiple endocrine neoplasia syndromes...
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Familial states of primary hyperparathyroidism: an update
BackgroundFamilial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence...
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Multiple endocrine neoplasia type 4 (MEN4): a thorough update on the latest and least known men syndrome
PurposeMultiple endocrine neoplasia type 4 (MEN4) is a rare multiglandular endocrine neoplasia syndrome, associated with a wide tumor spectrum but...
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Familial parathyroid tumours—comparison of clinical profiles between syndromes
IntroductionPrimary hyperparathyroidism (PHPT) caused by parathyroid tumours is mostly sporadic, with a genetic cause identified in 5–10% of cases....
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The Spectrum of Familial Pituitary Neuroendocrine Tumors
Hereditary pituitary tumorigenesis is seen in a relatively small proportion (around 5%) of patients with pituitary neuroendocrine tumors (PitNETs)....
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Familial syndromes associated with testicular and paratesticular neoplasms: a comprehensive review
A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large...
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Endocrine causes of hypertension: literature review and practical approach
Hypertension (HTN) affects more than 30% of adults worldwide. It is the most frequent modifiable cardiovascular (CV) risk factor, and is responsible...
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FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome
Adrenal cortical carcinoma is an aggressive and rare malignancy of steroidogenic cells of the adrenal gland. Most adult adrenal cortical carcinomas...
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The Spectrum of Endocrine Pathology
Endocrine pathology comprises a spectrum of disorders originating in various sites throughout the body. Some disorders affect endocrine glands, and...
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Hypoparathyroidism and late-onset hypogonadism in an adult male with familial 22q11.2 deletion syndrome: a case report with 3-year follow-up and review of the literature
Background22q11.2 deletion syndrome (DiGeorge syndrome) is associated with multiple organ dysfunctions such as cardiac defects, immunodeficiency, and...
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Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance
Tumors of the endocrine glands are common. Knowledge of their molecular pathology has greatly advanced in the recent past. This review covers the...
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Overview of familial syndromes with increased skin malignancies
The vast majority of skin cancers can be classified into two main types: melanoma and keratinocyte carcinomas. The most common keratinocyte...
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A novel likely pathogenetic variant p.(Cys235Arg) of the MEN1 gene in multiple endocrine neoplasia type 1 with multifocal glucagonomas
PurposeMultiple endocrine neoplasia type 1 (MEN1) is a hereditary endocrine syndrome caused by pathogenic variants in MEN1 tumor suppressor gene....
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Occult insulinoma with treatment refractory, severe hypoglycaemia in multiple endocrine neoplasia type 1 syndrome; difficulties faced during diagnosis, localization and management; a case report
BackgroundMultiple endocrine neoplasia type 1 (MEN 1) syndrome is a rare, complex genetic disorder characterized by increased predisposition to...
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Thymoma in multiple endocrine neoplasia type 1: a case report and systematic review
BackgroundMultiple endocrine neoplasia type 1 (MEN1) is a rare syndrome that combines endocrine and non-endocrine tumors. Thymic neuroendocrine...
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The pattern and clinical outcomes of non-diabetic pediatric endocrine disorders, Al-Baha, Saudi Arabia: a retrospective study
PurposePediatric endocrine disorders (PED) are a common component of medical health challenges in Saudi Arabia. We aimed to describe the pattern and...
