ESPE Abstracts

Introduction: Bilateral adrenal hemorrhage is a rare pathology, contrary to what happens with unilateral ones. It is more common in newborns and associated with situations of perinatal hypoxia, sepsis, traumatic births, or coagulation abnormalities. The classic triad includes jaundice, anemia, and a flank mass, which can lead to severe shock. Extensive bilateral hemorrhage is required to produce a situation of adrenal insufficiency. The diagnosis is made by im...

Introduction: Magnesium is the second most abundant intracellular cation, and its low level causes several side effects related to hypoparathyroidism, hypocalcaemia, and vitamin D deficiency. Furthermore, some of the cases of hypomagnesemia are linked to platinum-based chemotherapy, resulting in neurotoxicity and nephrotoxicity. Dorsal root ganglion is the main target of platinum drugs, whereby its signs and symptoms can be detected months after chemotherapy. ...

Pseudohypoparathyroidism (PHP) is a disorder caused by PTH resistance due to a genetic defect in imprinted GNAS cluster. It is characterized by high phosphorus, low to normal calcium and elevated PTH. It is classified into types 1a, 1b, 1c, pseudopseudohypoparathyroidism and type 2. Type 1a is often associated with Albright Hereditary Osteodystrophy (AHO) which is characterized by short stature, round facies, obesity, brachydactyly, ectopic calcifications and developmental del...

Introduction: Patients with Turner syndrome (TS) diagnosed beyond the age of 12 years present a real challenge for therapeutic management. Indeed, compromises must be made between the progressive induction of puberty and an efficient treatment with growth hormone to have the best possible results.Patients and methods: Our study concerns 18 cases of patients followed for ST in endocrinology consultation (CHU Constantine-A...

Introduction: Thyroid autoimmunity in chronic urticaria is a growing process and maybe manifested before concomitant with, or several years after the appearance of the urticaria. The association of chronic urticaria with autoimmune thyroid disease has frequently been reported in adults. Limited cases have been reported in children.Case Report: Here we describe an eleven years old girl. Who was born to non-consanguineous ...

Introduction: Growth without growth hormone (GWGH) is a rare phenomenon described in patients with hypothalamic structural pathology who present a normal growth rate in spite of growth hormone (GH) deficiency and low concentrations of insulin-like growth factor-1 (IGF-1). Possible aetiologies involve hyperinsulinaemia, hyperprolactinaemia or hyperleptinaemia; however, the exact mechanism is still unknown.Objective: We ai...

Objective: Somatic mutations in the USP8 gene were discovered as the most common genetic defects in corticotropinomas with a frequency of 30 to 60% in adult patients. With regard to pediatric patients, establishing prevalence of USP8 mutations is still challenging due to the rarity of CD incidence in childhood.Aim: To determine the frequency of somatic genetic drivers of CD in a cohort of pediatric patients.<p class=...

Background: Klinefelter Syndrome (KS) is the most common chromosomal anomaly in males associated with infertility. Advances in assisted reproductive medicine have made conception possible for some men with KS, with increasing scientific interest gathered around semen cryopreservation and testicular biopsy for sperm extraction (TESE).Objectives: This project aims to examine the current practice in a paediatric tertiary ho...

Neonatal thyrotoxicosis is rare and most of the cases are secondary to maternal Graves’ disease. It is usually transient, but can be associated with significant morbidity and mortality if not recognized promptly and treated adequately. We report a case of a 20-day-old female infant who developed thyrotoxicosis with irritability, tachycardia, and relatively poor weight gain. She was born to a mother who took levothyroxine during pregnancy after undergoing a thyroidectomy ...

Recent years have seen significant progress towards defining the genetic aetiology of neonatal diabetes with >20 subtypes identified. It is likely that all cases of neonatal diabetes result from a single gene disorder since markers of autoimmunity associated with type 1 diabetes are rare in patients diagnosed before 6 months.Heterozygous activating mutations in the KCNJ11 and ABCC8 genes encoding the Kir6.2 and SUR1 subunits of the ...