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 ...

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 ...

IntroductionKleine-Levin syndrome, also called recurrent hypersomnia is a rare sleep disorder characterized by recurrent episodes of severe hypersomnia associated with cognitive and behavioral disturbances such as confusion, derealization, apathy, compulsive eating and hypersexuality. Menstrual-related hypersomnia is classified as a subtype of syndrome Levin-Kleine consisting of recurrent hypersomnia that is temporally linked with menses.<p class="ab...

Introduction: Congenital ichthyoses are a group of inherited keratinization disorders that pose a challenge in terms of diagnosis, treatment, and clinical associations with other pathologies. The association with vitamin D deficiency and possible bone changes is cited, but the exact mechanism of occurrence of endocrine pathologies is not described.Case report: We report the case of a 16-year-old teenage boy known to have congenital ichthyosis, having bee...

Introduction: Pituitary Stalk Interruption Syndrome (PSIS) is a congenital developmental anomaly affecting the pituitary gland. Characterized by a triad of features including a thin or absent pituitary stalk, adenohypophysis hypoplasia, and ectopic neurohypophysis on MRI, PSIS can lead to isolated or combined pituitary hormone deficiency. Symptoms may manifest at various life stages, with 70% of cases identified in childhood due to growth retardation. Notably, some patients ex...