ESPE Abstracts

Background: The Hedgehog (HH) family plays an important role in the development, proliferation and homeostasis in various tissues and organs. Desert hedgehog(DHH), as a member of this family, is mainly involved in the normal development of testis and the formation of nerve sheath. DHH variation mainly causes 46, XY disorders of sex development (DSD) with or without minifascicular neuropathy(MN). Up to date, only 22 affected patients in detail have bee...

Case report: 6 yrs. old boy presented with high total T4, free T4, reverse T3, and normal total T3 and TSH. He has a history of tic disorder. Blood pressure, and heart rate were normal, no palpitations, no weight loss. Thyroid peroxidase and thyroglobulin antibodies were normal. Thyroid sonogram was normal. Family is of Hispanic origin. There was a family history of elevated T4 in the paternal uncle (half-brother of the father)Me...

The coronavirus disease (COVID-19) pandemic brought with it a state of alarm as of March 14, 2020, which implied a restriction on the mobility of the general population and home confinement. One of the main concerns raised by isolation was the substantial reduction in energy expenditure due to children spending more time sitting or participating in activities that involve very low rates of energy expenditure, such as watching television, managing the different networks social ...

Background: McCune-Albright Syndrome(MAS）includes fibrous dysplasia(FD), cafe-au-lait spots and gonadotropin-independent precocious puberty(PP). Adenohypophyseal hyperfunction syndromes is uncommon but may be potentially severe complication.Objective: To report a girl who has been confirmed McCune-Albright syndrome and has been found pituitary adenoma during follow-up.Methods:</stron...

Background: Thyroid hormones act via receptors (TRα; TRβ) encoded by separate genes (THRA, THRB). Mutations in THRA are a recently-recognised cause of Resistance to Thyroid Hormone alpha (RTHα), a disorder with tissue-specific hypothyroidism but near-normal thyroid function tests.Aim: We describe the youngest recorded case of RTHa, in a 2yr old boy with disproportionate short stature, ...

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial multisystem disorder. The m.3243A>G pathogenic variant in the mitochondrial gene MT-TL1 is present in approximately 80% of individuals with MELAS. In this article, we report a 7-year-old girl with the classical MELAS phenotype. After the age of 1 year, she had recurrent episodes of nausea and vomiting. In this episode, she presented with focal seizures ...

Background: Human IGF1 gene defects are characterized by intrauterine and postnatal growth retardation, sensorineural deafness, microcephaly and intellectual disability. Seven cases have been reported so far, and the underlying pathophysiology has been characterized in only three.Objective: To describe a patient with severe short stature presenting a novel homozygous IGF1 gene mutation and its underlying pathogenic mechanism.<p clas...

Introduction: Autoimmune Polyglandular Syndrome Type 1 (APS-1) is a rare autosomal recessive hereditary disorder resulting from a mutation in the AIRE gene. APS-1 is characterized by three classic clinical features: hypoparathyroidism, Addison’s disease and chronic mucocutaneous candidiasis. Additionally to the classic triad, the phenotype of APS-1 includes several endocrine and non-endocrine autoimmune manifestations. Purpose:Topresent a rapid onset and progression of ch...

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe and extremely rare form of congenital adrenal hyperplasia (CAH). The typical features include 46, XY disorder of sex development (DSD), early-onset adrenal crisis and enlarged adrenal with fatty accumulation. We reported a case of congenital lipoid adrenal hyperplasia (CLAH) caused by steroidogenic acute regulatory protein (STAR) gene mutation. The patient had typical early-onset adrenal crisis at the age of 2 mon...

Background: The honeymoon period of type 1 diabetes mellitus (DM1) is characterized by reduced insulin requirements to <0.5 Units/kg per day while maintaining good glycaemic control.Case study: Seven years old boy who was diagnosed with type 1 diabetes mellitus presented with history of polyuria, polydipsia and weight loss for 3 weeks duration. His random Blood glucose=408 mg/dl with initial HBA1C 12.7%. Family history was unremarkable for diabetes ...