Endocrine Abstracts

Introduction: Neuropsychiatric manifestations are well recognised in patients with primary hyperparathyroidism (PHP). Abnormal calcium channel physiology has been implicated in several pain disorders. The psychopathology emerges after prolonged subclinical hypercalcemia, but there is poor correlation with symptom severity. We report the complex management of two adolescents with PHP, secondary to parathyroid adenoma (no predisposing germline mutation identified), with persiste...

Tributyltin (TBT) is a biocide organotin compound widely used as an antifouling in boat paints. This substance is a factor of contamination to water and food, especially marine fish. As an endocrine disruptor, TBT can interact with hormonal pathways and can induce gonadal dysfunction and glycemic dyshomeostasis; however, the effects caused by maternal exposure to TBT are scarce. Here, we investigate maternal exposure to low dose of TBT, considered safe, during pregnancy and la...

Caffeine crosses the placenta and mammary barrier and can affect the offspring metabolism and endocrine system from heavy caffeine users. Here, we tested the impact of a safe dose of maternal caffeine (200-300 mg/day) on plasma hormone of offspring from both sexes at different ages (weaning, puberty and adulthood). For this, pregnant Wistar rats received caffeine (25mg/kg/day) by gavage or vehicle during gestation (GEST group), lactation (LACT group) or both periods (G+L group...

Context: Immediate and sustained cure of acromegaly can only be achieved by surgery, however, most growth hormone (GH) producing adenomas are macroadenomas (≥ 10 mm) at diagnosis, with reported surgical cure rates of approximately 50% compared to microadenomas (<10 mm) with an expected higher cure rate (around 80%). Further, long-term data on remission rates after surgery are sparse. Aim: Estimate short- and long-term surgical remission rates o...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Introduction: Malnutrition and sarcopenia are interrelated and frequent in hospital settings, being related to a higher morbimortality. CIPA nutritional screening (performed at the Hospital Universitario Nuestra Señora de Candelaria) is positive when one or more of the following criteria is met: a) decreased oral intake in 72 h (<50%), b) albumin <3 g/dl, and c) BMI <18.5 g/m2 or mid-upper arm circumference (MUAC) ≤ 22.5 cm.<p class="abste...

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by germline mutations of MEN1 gene, without genotype–phenotype correlation. It is defined as the occurrence of two or more primary neuroendocrine tumors (parathyroid, enteropancreatic, pituitary), or the occurrence of one of the MEN1-associated tumors in family members of a patient with a clinical diagnosis of MEN1. Multiple parathyroid tumors with hyperparathyroidism are the most common m...

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by an increased predisposition to the development of tumors of the endocrine tissues, such as parathyroid glands, anterior pituitary, and duodenopancreatic neuroendocrine tumors. It is an autosomal dominant disorder due to germline mutations in the MEN-1 tumor suppressor gene. This gene encodes the menin protein, which is involved in cell growth and differentiation, and in sensing or repairing DNA damage. We present ...

Introduction: Insulin-like growth factor 1 (IGF-1) is an established serum marker for both diagnosis of growth hormone (GH) deficiency and for monitoring treatment with Somatropin, whether it is recommended for the classic GH-insufficient short stature cases or for other GH-sufficient disorders.Aim: To evaluate whether serum level of IGF-1 at diagnosis has a predictive value for the response to somatropin treatment during the 2 years of treatment in chil...

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...