ESPE Abstracts

Objective: To report the clinical and gene mutation characteristics of a patient with lysine urinary protein intolerance (LPI) characterized by lupus nephritis, lupus encephalitis and extreme short stature, so as to improve understanding of the clinical characteristics of LPI caused by SLC7A7 gene mutation.Methods: The clinical manifestation, laboratory examination and gene test results of a child with LPI diagnosed and ...

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

Donohue syndrome(DS) is a rare and often lethal autosomal recessive disease. Its prevalence is estimated less than one in a million live births. Mutations in the insulin reseptor (INSR) gene cause rare severe INSR-related insulin resistance syndromes such as DS. It is characterized by severe insulin resistance (hyperinsulinemia, fasting hypoglycemia and postprandial hyperglycemia), intrauterine and postnatal growth retardation, hypotonia, organomegaly including heart, liver, k...

Background: Familial hypocalciuric hypercalcemia is a rare, lifelong, but benign hereditary disorder due to its mild, often asymptomatic phenotype. Here we present a rare case of neonatal hypocalciuric hypercalcemia complicated with arrhythmia.Case: A healthy male infant weighing 2636g was delivered by spontaneous vaginal delivery at term. The pregnancy had progressed normally, but neonatal arrhythmia was found by physic...

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA), also known as Rogers syndrome, is characterized by megaloblastic anemia, sensorineural hearing loss, and diabetes mellitus. Disturbances of the thiamine transport into the cells results from homozygous mutation in the SLC19A2 gene. Rhythm disturbances and structural cardiac anomalies have been described in the syndrome.Case presentation: We report a bo...

Introduction: Development of type 1 diabetes is well known in cases of type 2 autoimmune polyglandular syndrome (APS). We describe a case of APS2 who developed a hybrid form of diabetes that responded to metformin therapy.Case: The patient is a 17.5 year old male patient who has been diagnosed with APS2 at the age of 13 years with primary adrenal insufficiency and autoimmune hypothyroidism .he has been on treatment with ...

Case: An 8-year-old boy with Down syndrome. He was born at 36 week of gestation, birth weight was 1668 g (-2.5 SD). He complicated transient hyperinsulinemia (THI) treated with diazoxide for 2 months and hypothyroidism continuing treatment with levothyroxine. He was not detected transient abnormal myelopoiesis at neonatal period. He was diagnosed with precursor B-cell acute lymphoblastic leukemia (ALL) at age 8 years and started chemotherapy with a steroid, an...

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 ...

Objectives: Familial hypocalcemia is a rare autosomal dominant disease characterized by hypercalciuric hypocalcemia. The disorder is caused by heterozygous mutation in the CASR gene that encode a calcium-sensing receptor in parathyroid glands and kidney tubules.Clinical case: The boy was born at term from non-consanguineous parents with normal length and weight. On the second day of life he was admitted to an intensive care department with convu...