ESPE Abstracts

Introduction: McCune Albright syndrome (MAS) is classically defined by the clinical triad: fibrous dysplasia of bone, café-au-lait skin pigmentation and endocrinopathies :The most frequent is precocious puberty. Linked to a somatic mutation of the α subunit of the Gs protein, this syndrome leads to a constitutive activation of adenylate cyclase, to the excessive production of AMPcCase presentation: Here we r...

Introduction: In Pseudohypoparathyroidism (PHP), parathyroid glands are normal or hyperplastic and they can synthesize and secrete parathyroid (PTH) hormone. Serum immunoreactive PTH are elevated even when the patient is normocalcemic. Neither endogenous nor administered PTH raises the serum Ca or lowers the levels of P. Depending on the phenotypic and biological findings, PHP is classified into various types.Case Report:</strong...

Adolescent idiopathic scoliosis (AIS) is the most common form of scoliosis, affecting approximately 2 to 4 percent of adolescents. AIS by definition occurs in children between 10 to 18 years old, in periods of growth spurts and puberty changes. In patients with central precocious puberty (CPP), generally, growth spurts start earlier than their peers. Therefore, AIS in patients with CPP is expected to develop earlier in juvenile age. Especially in girls, both AIS and CPP are mo...

20 months old girl has frequent hypoglycemias, protruding forehead(frontal bossing), sunken bridge of the nose (saddle nose), and a blue tint to the whites of the eyes (blue sclerae). short limbs compared to the size of her torso, as well as small hands and feet, fragile thin hair,short limbs, Genu varum, Brachydactyly,malar falttening, motor delay, delayed teeth eruption, when plotted to growth chart height found far below the third centile for age,sex,population, Hre laborat...

Introduction: Acromesomelic Dysplasia of Maroteaux (AMDM) is a cause of severe short stature (final height below120cm) with shortening of the middle and distal segments of the limbs, caused by homozygous or heterozygous mutations in the NPR2 gene which encodes natriuretic peptide receptor B on chromosome 9p13Case report: The proband was 4y6mo old, second born to 3rd degree consanguineous parents and presented ...

2 siblings were referred for evaluation fo short stature and failure to thrive. Both were born of 3rd degree consanguinity, first and second in birth order. the first sibling was 2 1/2 year old at time of referral and had birthweight of 3.1 kg and had gross motor delay. Present height was 65 cm (SDS −6.2 S.D.)and weight was 6 kg (<3rd centile) Second sibling was 1.5 years old, with gross motor delay with height of 57 cm (SDS −6.5 S.D.</sma...

Epiphysis inhibits formation and secretion of the most pituitary hormones and at the first turn gonadotropins. Frequency of epiphysis tumors, pinealomas in children is 2.5% of all verified tumors of brain. 75% of epiphysis tumors are malignant. Endocrinological disturbances can be the first signs of pinealoma. In 10% cases there is precocious puberty syndrome. A 2.5 year-old boy presented to the endocrinology department with an 16-month history of accelerated physical developm...

Objective: The programmed cell death 1 protein (PD1) is a T lymphocyte membrane receptor, which when bound to its ligand PD – L1 inactivates the cytotoxic T lymphocyte, thereby down regulating the immune response. Cancer may upregulate PD – L1 on the cell surface, further downregulating the immune response. Nivolumab, a so called check point inhibitor, is a PD1 antibody, and when bound to PD1 keep the cytotoxic T lymphocyte active. Cytotoxic T lymphocyte activation b...

We present the case of a 7-year-old female affected by permanent congenital hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome. The patient was born at 31+4 gestational weeks because of premature rupture of membranes. At birth her auxological parameters were adequate for gestational age with a 75th percentile head circumference. She was diagnosed with congenital hypothyroidsm (TSH 1016 mcu/ml, FT4 <0.4 ng/dl) with an in situ gland caused by a homozygous mutation...

Background: There is controversy regarding cognitive affection in patients with congenital adrenal hyperplasia (CAH).Objective and hypotheses: Assess cognitive functions in children with CAH, and their relation to hydrocortisone (HC) therapy and testosterone level.Method: Thirty children with CAH due to 21 hydroxylase deficiency were compared with 20 age and sex matched healthy controls. Hydrocortisone daily dose and cumulative dos...