IMPE Abstracts

Diabetes insipidus (DI) is characterized by polydipsia and polyuria with a dilute urine. Central DI (CDI) results from a deficiency of arginine vasopressin (AVP) and may be due to congenital or acquired causes, the latter include tumors affecting the hypothalamic-pituitary region. Thirst acts as a central biological backup mechanism in the absence of AVP, allowing plasma osmolarity to remain stable. We describe ADI patients with hypothalamic damage, who lose the ability to per...

Introduction: Pituitary gigantism is a rare disorder resulting from excessive growth hormone (GH) production in children. Somatostatin is a physiological inhibitor of GH secretion, and somatostatin analogs have been used in medical treatment of acromegaly in adults. Here we present a case of pasireotide use for management of pituitary gigantism not amenable to complete surgical resection.Case: A 15yo Ukrainian refugee fe...

Background: Pituitary adenomas are rarely encountered in children. If present, they are associated with a heavy clinical burden due to local compressive symptoms, the systemic effects of hormonal hypersecretion, and the need for neurosurgery, chronic medical therapy, or radiotherapy. The genetic analysis can provide essential information on the course of the disease and the best choice of treatment. Cases: Here, we describe 3 patients with acromegaly due to ge...

Introduction: The age of onset of puberty in girls has been decreasing in recent decades. An increase in the incidence of precocious or early onset of puberty has been observed during the COVID 19 lockdown. Objective: To establish the characteristics of a group of girls who have consulted for precocious or early puberty during the lockdown period from March 2020 to April 2021. Materials and methods: Data of 104 girls from the metropolitan area of Buenos Aires,...

Introduction: Cushing's disease (CD) in the context of chronic kidney disease (CKD) is very rare. CKD causes physiological hypercortisolism making the diagnosis of CD extremely difficult.Aim: To report 3 female patients with CKD and CD and to outline the principles that may guide the diagnosis of CD in this context.Case report: P1. A 12.3-year-old patient with CKD secondary to...

Genetic forms of central diabetes insipidus have been described in patients with mutations in the AVP gene (autosomal dominant or recessive) and in the WFS1 gene (Wolfram Syndrome, autosomal recessive). Autosomal dominant forms are the result of mutations in the portion of the AVP gene that codes for the peptide Neurophysin II (NPII). Pathogenesis is related to the toxic cellular effect of the mutated protein. Although clinical presentation is usually in the pediatric age, var...

ObjectivesGonadotropin-releasing hormone (GnRH) stimulation test is the gold standard test when diagnosing central precocious puberty (CPP). Gonadorelin (Relefact®) is used for the test but it is not always readily available and triptorelin can be used instead. The purpose of this study was to evaluate the diagnostic validity of triptorelin test compared to the GnRH test in diagnosing CPP.MethodsA retrospective study...

Background: Polyuria and polydipsia can manifest at any age and the determination of a specific diagnosis can be more challenging at a younger age. Once osmotic diuresis has been ruled out, polyuria can be explained by one of three conditions: insufficient production of antidiuretic hormone (Central diabetes insipidus –CDI), decreased renal sensitivity to antidiuretic hormone (nephrogenic diabetes insipidus – NDI) or excessive fluid intake (Primary...

Background: Gonadotropin-releasing hormone (GnRH) analogs are widely used in the treatment of central precocious puberty (CPP). Triptorelin is available as 1-month and 3-month prolonged release (PR) formulations, but only the former is approved for CPP in China. This phase 3 study assessed whether the effectiveness of triptorelin 3-month PR formulation in Chinese children with CPP was comparable to overseas children.Methods:</str...

Case presentation: A 17-year-old female patient with non-consanguineous parents. She was born at 39 weeks, with normal weight and height for gestational age, with nasal agenesis and bilateral microphthalmia. She consulted pediatric endocrinology for delayed puberty, with adequate neurodevelopment. Laboratory tests revealed hypogonadotrophic hypogonadism and significant delay in bone age. Table 1. Brain resonance revealed arrhinic choanal atresia, absence of ol...