Endocrine Abstracts

Introduction: The pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of diseases characterized by end-organ resistance to parathyroid hormone (PTH). PHB type 1b (PHP1b) presents with PTH resistance at the renal proximal tubule, sometimes with TSH resistance, usually in the absence of Albright’s hereditary osteodystrophy (AHO) clinical features.Case report: A 64-year-old male was referred to endocrinology department for hypocalcemia. He...

Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a relatively recent and rare disease, frequently misdiagnosed. It is characterized as a generalized proliferation of pulmonary neuroendocrine cells and is recognized as a precursor lesion for pulmonary neuroendocrine tumors, although the risk of progression to malignancy is considered low. Here we report a patient with ectopic ACTH-dependent Cushing’s syndrome due to metastatic lung carcinoid tumors...

Introduction: Antithyroid drugs (ATDs) are generally safe and well tolerated, however, major side effects such as hepatotoxicity and agranulocytosis may occur and patients should be provided information on the major symptoms of these conditions. Although rare, agranulocytosis appears to be more likely with propylthiouracil (PTU) at any dose than with low-dose Methimazole (MMI). Clinical Case: We describe the case of a 70-year-old woman referred to Endocr...

Introduction: Ectopic ACTH production accounts for up to 20 percent of ACTH-dependent Cushing syndrome (CS). Small cell carcinoma and carcinoid of the lung represents half of its cases. These patients lack some of the more obvious clinical features of cortisol excess. Therefore, this can cause a delay in the diagnosis of CS and these patients may be at high risk of life-threatening complications such as infections or thrombosis.Clinical case: Case of a 7...

Introduction: Generously supported by IPSEN)-->PROP1 (Prophet of Pit-1) mutations are the most frequent genetic cause of panhypopituitarism, a condition associated with a deficiency or inadequate production of hormones of the anterior pituitary. The PROP1 gene encodes a transcription factor involved in the ontogeny, differentiation and function of somatotrophs, lactotrophs and thyrotrophs. These mutations are characterized by a remar...

Introduction: Maternal obesity is associated with an increased risk of gestational diabetes, large for gestational age (LGA) newborns, preterm delivery, congenital malformations, and fetal death. On the other hand, bariatric surgery before pregnancy is associated with a reduction of obesity-associated complications, but also with an increased risk of small for gestational age (SGA) newborns, fetal growth restriction and micronutrient deficiencies during pregnancy.<p class=...

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing’s syndrome (CS). It is a highly heterogeneous disease with multiple adrenal macronodules and variable levels of cortisol excess. The pathogenesis is complex and different mechanisms such as aberrant hormone receptors, local production of ACTH in adrenal tissues and genetic mutations have been identified. The approach is not well established. Nine patients with PBMAH who are currently fol...

Introduction: Black adrenal adenomas are rare and benign. They are named after their black appearance, due to lipofuscin pigment. Most frequently black adenomas are associated with ACTH-independent Cushing’s syndrome. They can also cause primary hyperaldosteronism or be nonfunctioning. Unlike most other adrenal adenomas, black adenomas exhibit high Hounsfield units (>30) on CT, and high standard uptake value on FDG-PET.Case presentation: A 67-ye...

Introduction: In patients with ACTH-dependent Cushing Syndrome, differentiating between pituitary and ectopic sources can be challenging. Noninvasive testing can be performed, but bilateral inferior petrosal sinus sampling (BIPSS) remains the gold standard. In the last years however, novel imaging modalities, namely 3T-MRI with 3-dimensional spoiled gradient-echo sequence and 68Ga-tagged CRH combined with positron emission tomography, have been proposed as alternatives.<p ...

Introduction: People living with human immunodeficiency virus (HIV) are at increased risk of developing metabolic disorders, such as obesity, dyslipidemia, insulin resistance, diabetes and hypertension; which may also be associated with hypercortisolism. Due to the similarity between the metabolic changes present in these two clinical situations, several studies have evaluated whether HIV-infected patients have increased levels of cortisol, but the results are not consensual. ...