ESPE Abstracts

Introduction: VDDR II is an autosomal recessive disorder caused by a defect in the vitamin D receptor gene located on chromosome 12q12–q14. Thus far, 13 mutations have been identified. It is characterized by hypocalcemia, secondary hyperparathyroidism, and early onset severe rickets. Here we report a case of a severe form of rickets associated with alopecia.The Case: This 23-month-old boy was born at term to consang...

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder caused by loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor. This factor plays a key role in the differentiation and function of CD4+ CD25+ regulatory T cells, essential for the establishment and maintenance of natural tolerance.Objective: To describe clinic...

A 14-year-old male had a severe traumatic brain injury (TBI) after a motorcycle accident 11 months ago. He underwent craniotomy and was admitted in ICU. Two months later, he was diagnosed as refractory epilepsy. Three episodes of seizure were related to low blood sugar (blood sugar 10-20 mg/dL). He had inadequate intake due to fatigue and loss of appetite. Liquidized food via the enteral feeding route every 4 hours was used to prevent hypoglycemia. Levetiracetam (Keppra) 250 m...

Background: Adrenal hypoplasia congenita (AHC) is a rare disorder with an estimated frequency of 1 case per 12,500 live births. AHC causes 46,XY disorders in sex development (DSD) due to adrenal androgen deficiency.Objective: Case report ona male AHC patient with no external genitalia abnormalities.Case report: The baby was born at 37 weeks'gestation with a height of 46.5 cm (-...

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Background: Graves disease (GD) is an autoimmune condition caused by direct stimulation of the thyroid epithelial cells by thyrotropin (TSH) receptor antibodies (TRAb). The action of TRAb can be stimulating, blocking or neutral. Antibodies with agonist action are also called thyroid stimulating immunoglobulins (TSI). The diagnosis of GD is typically confirmed with TSI titer which is positive in >90% of patients. In patients that have negative TSI, high...

Background: Johanson-Blizzard syndrome (JBS) is a disease characterized by poor growth, variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, sensori-neural deafness, abnormal hair patterns or scalp defects, and oligodontia. Other features of JBS include pan-hypopituitarism, imperforate anus, and PI. Pancreatic endocrine insufficiency (PI).Case study: AM is a 10 years-old boy, born at term with aplasia of the alae nasi and cong...

Case report: We describe a male with tall stature (final height 210.5cm), macrocephaly (63.5cm, +5.5SD), obesity (BMI 44.6 kg/m2) and mild learning difficulties. Birth weight was 4.6kg (+2.3SD). He had slightly delayed developmental milestones. He was referred at the age of 5 for tall stature (+6.2SD), with a head circumference on the 98th centile, growing at a rate of 10cm/yr. He had thick doughy skin, a mild squint, somewhat coarse features, large hands...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

We present a 13-year old boy, who presented with acute testicular pain. Examination revealed bulky, nodular testicular enlargement. Testicular ultrasound showed multifocal, hyperechoic, calcified masses in both testes, characteristic of large cell calcifying Sertoli cell tumours (LCCSCTs), following which he was referred to endocrinology. He had a history of benign skin tags and a previous chest wall tumour, confirmed as a lipoblastoma on histology. Physical examination showed...