Endocrine Abstracts

Introduction: The change in thyroid parameters is described in the case of antiepileptic treatment in the pediatric population, due to interferences within the hypothalamo-pituitary-thyroid axis and due to the increase in the rate of hepatic metabolism of thyroid hormones.Case presentation: We present the case of a 10-year-old boy who addressed our outpatient pediatric endocrinology department for endocrine evaluation in the context of weight growth abou...

IntroductionPituitary stalk interruption syndrome (PSIS) is a rare entity characterized by a triad of thin or interrupted pituitary stalk, aplasia or hypoplasia of the anterior pituitary and absent or ectopic posterior pituitary seen on magnetic resonance imaging (MRI). We are presenting the clinical case of a child who presented for short stature.Case presentationWe present the case of a 4 year and 8 months ...

Craniopharyngiomas are rare, benign tumors, typically found in childhood or early adulthood, that can cause a wide range of symptoms such as visual impairment, headaches, nausea and endocrine disturbances. Ewing sarcoma, on the other hand, is a rare and aggressive tumor that arise from primitive neuroectodermal cells and represents about 10% of all pediatric osseous primary tumors. We present the case of a 14-year-old patient who was admitted to our clinic in March 2022 for ob...

Introduction: MEN4 syndrome is a recently described form of MEN in patients with parathyroid and anterior pituitary tumors, which may also develop bronchial, gastric and pancreatic neuroendocrine tumors. In general, the patients present with clinical signs of primary hyperparathyroidism and simptoms caused by pituitary hormones hypersecretion or due to the tumor mass. However, clinical cases with the coexistence of pituitary tumors and pheochromocytoma are very rare described....

Introduction: Thyroid cancer incidence has registered an important increase in the last years. Anaplastic thyroid cancer represent a rare malignancy with an aggressive biological behavior and a high mortality rate.Case presentation: We present the case of a 69-years-old woman who addressed our department for endocrine evaluation in the context of a right latero-cervical lymph nodes, complaining of mixed dysphagia and dyspnea, that developed progressively...

IntroductionChromosome 18p deletion syndrome is a rare chromosomal abnormality caused by the complete or partial delation of the short arm of chromosome 18, represented by facial dysmorphic features, hypodontia, microcephaly, short webbed neck, intellectual disability, reproductive system dysplasia, rarely with autoimmune disorders and IgA, IgG or IgM deficiency. A small subset of patients, approximately 9–10% have cardiac/brain disorders. Circa 150...

BackgroundSecondary hyperparathyroidism is a condition that can occur as a result of low vitamin D level. Parathyroid hormone (PTH) has the role of stimulating bone resorption by two mechanisms: direct activation of osteoblasts and indirect stimulation of osteoclast. Exostosis or bone spur is a benign tumor that consists in overgrowth of a pre-existing bone. Exostoses can affect any bone, however they are most commonly located on the bones of the joints ...

Introduction: Cryptorchidism is unilateral or bilateral absence of the testes from the scrotum. One of the differential diagnosis is congenital bilateral anorchia. Vanishing testes syndrome is associated with low serum AMH concentrations and an absent or subnormal response to stimulation with hCG. We report the case of a 22-year-old boy diagnosted with bilateral cryptorchidism and hypergonadotropic hypogonadism at the age of 17 years old. At the time of diagnosis the scrotum w...