ESPE Abstracts

Background: Type 1 pseudohypoaldosteronism (PHA1) is a rare syndrome characterized by unresponsiveness to aldosterone. Diagnosis is established by high levels of aldosterone and plasma renin activity, associated with findings of hypoaldosteronism (hyponatremia, hyperkalemia and metabolic acidosis). When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease and the mortality rate is high, especially in the neonatal period....

The homeostatic control of energy balance is tightly regulated. Appetite and energy expenditure regulation involves neurons in the hypothalamus as well as other brain regions, including the limbic system, amygdala and the brainstem. Hypothalamic obesity is a well-recognized consequence of lesions such as craniopharyngiomas and other tumors in the hypothalamic region. Less known is obesity related to tumors in other brain regions. The child presented at 14 years of age with fai...

Growth Hormone insensitivity (GHI) is characterized by short stature, GH resistance and IGF-1 deficiency. Classical GHI includes defects in the GH receptor and other genetic abnormalities downstream the GH cascade. Various short stature syndromes have phenotypes that overlap with GHI. This report discusses two cases of nonclassical GHI. Patient 1 is a boy with STAT3 gain-of-function syndrome (STAT3 GOF), characterized by immune dysregulation and growth failure. He developed ea...

Introduction: 21-hydroxilase deficiency (21OHD) is the most common form of congenital adrenal hyperplasia. Mutations of CYP21A2 induces 21OHD, a rare autosomal recessive manner. CHARGE syndrome (CS) is a rare autosomal dominant manner that is typically caused by heterozygous chromodomain helicase DNA binding protein-7 (CHD7) mutations. Here, we report the combination cases with genetically diagnosing 21OHD and CS at the first time.Case:...

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

Background: Boys with 21-hydroxylase deficiency (21-OHD) develop testicular adrenal rest tumors (TARTs) at a high percentage. TARTs may lead to testicular structure damage and infertility. Treatment consists of increasing the glucocorticoid dose to suppress ACTH or surgery when necessary.Objective and hypotheses: We present an adolescent with TART who was treated by testicular sparing surgery at the age of 11.Method: A 13 -year-old...

Introduction: Hypothyroidism is the commonest endocrine disorder which associates with Trisomy 21. It affects the physical and intellectual development of children. It can be either congenital or acquired.Case report: 9 years old boy diagnosed patient with Trisomy 21; presented with the complaint of bowel not opened for 3 weeks and grossly distended abdomen. On the day of admission, he had low-grade fever and settled wit...

Background: Statural overgrowth in SOTOS syndrome is well recognised. However excessive growth away from the usual growth trajectory should prompt assessment for other causes of growth acceleration.Case: TE was referred for a growth assessment at 6.8 years as he appeared to have grown more in the previous year. He was 142.9 cm (Ht SDS +4.32), weight 44.4kg (BMI SDS +2.85). He had no formal genetic diagnosis except that he was clearly dysmorphic with glob...

Background: Thyrotoxic periodic paralysis (TPP) is a rare clinical manifestation of hyperthyroidism, commonly seen in Asian males. Patients often present with sudden onset muscle weakness associated with severe hypokalemia.Case presentation: A 16-year-old Filipino male presented with acute onset bilateral lower extremities weakness. He woke up at night but was unable to move his legs. He denied any recent viral infections, ingestion of canned food or his...

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...