ESPE Abstracts

Males with Klinefelter syndrome (KS) have impaired gonadal function due to sex chromosome aneuploidy (47,XXY), ultimately resulting in testicular atrophy and hypergonadotropic azoospermia, thus infertility. At what time serum testosterone (T) concentrations decline in affected individuals, thereby indicating lifelong replacement, is not predictable. An early testosterone treatment provides potential benefits with respect to body composition, neuro-muscular function and final h...

Background & Purpose: Vitamin D is essential for bone and calcium metabolism, and a deficiency of this nutrient can lead to rickets and hypocalcemia. A 25 hydroxy-vitamin D (25OHD) value below 12 ng/mL (30 nmol/L) has been established by global consensus on the basis of several studies as constituting vitamin D deficiency. For example, (1) the incidence of nutritional rickets can increase at a 25OHD concentration of less than 12 ng/mL; (2) PTH increases wh...

At type 1 diabetes (T1D) onset, international guidelines reccommend a starting subcutaneous insulin dose widely ranging from 0,5 to 1 u/kg/day. In fact, many factors such as age, pubertal stage and the severity of ketoacidosis, may influence insulin sensitivity. However, it is a common experience that many subjects may require a higher insulin daily dose than expected, with the subsequent need of longer time to achieve stable blood glucose values and the extension of days of h...

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

Background: Transient hyperinsulinism (HI) is a condition characterized by high insulin level, low FFA level in a context of severe hypoglycemia in neonate. Our objective is to present a case of a transient hypoglycemia in a newborn. Evaluation and management of this condition is discussed.Case presentation: A 14days old term baby was diagnosed with bilateral bronchopneumonia. He received antibiotics and nasal drop. On d...

Background: The causes of most cases in girls with central precocious puberty is idiopathic, and tend to be older compared with neurogenic causes. When confronted with a very young child with sexual precosity, full endocrine work up is necessary and there is no doubt for the need to treat.Case: SG presented at the age of 2.6 years with thelarche and pubarche for one month. As her mother is tall (175cm, 97th centile), she...

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

Background/aims: Incidence of Autoimmune disease dramatically increases in children and adolescents in the past decades. But in other hand case of APS is rare. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report case of APS syndrome with unusual presentation.Case presentation: Patient 16.4 years old boy with diabetes mellitus since the age of 2.6 years. Mother died at age 40, when boy had 5 years...

Introduction: Klippel-Feil Syndrome (KFS), prevalence of 1:40000, is characterized by congenital fusion of cervical vertebrae; three major features are short neck, low hairline at the back of the head and a limited range of motion in the neck. The phenotypic expression is variable, presenting with other vertebral abnormalities (congenital high scapula, scoliosis, kyphosis, spina bifida, hemivertebrae) or extra skeletal symptoms such us deafness, renal, heart or neurological ab...

Introduction: An age-related progression from C-cell hyperplasia to medullary thyroid carcinoma (MTC) is associated with various germ-line mutations in the rearranged during transfection (RET) proto-oncogene that could be used to identify the optimal time for prophylactic surgery. In 207 patients from 145 families there was a significant age-related progression from C-cell hyperplasia to MTC. Thus, early diagnosis and prevention are particularly crucial....