ESPE Abstracts

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

Introduction: Sex determining region Y (SRY gene) located in chromosome Yp11.3, initiate gonadal differentiation into testes, which subsequently leads to development of Wolffian duct, male external genitalia, and regression of Mullerian duct. Not only SRY, SOX9, FGF9, DAX1, WT1, RSPO1, and SOX10 contribute for gonadal differentiation. Imbalance of expression of above genes in the absence of SRY leads to 46, XX testicular DSD. We describe a case of 46...

Background & Aim: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive condition characterized by inadequate production of cortisol and aldosterone and accumulation of androgens. Beta thalassemia is an autosomal recessive condition caused by defective beta-globin resulting in accumulation of unbound alpha globin chains leading to ineffective erythropoiesis. We are reporting an unusual case of CAH due to 21-hydroxy...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Introduction: Chronic pancreatitis is defined as recurrent or persistent pancreatitis, which will result in irreversible morphological change in pancreatic structure leading to pancreatic exocrine and endocrine insufficiency. ICCP is a rare condition and only few cases in adults have been reported in Sri Lanka. Prevalence of ICCP is highly variable in Asian and western countries. We present a rare case of FCPD in a 9 a years old boy.<str...

Background: Infantile hypophosphatasia (HPP) is an ultra-rare condition that may lead to debilitating morbidity and mortality. The prevalence of HPP in Indonesia is unknown. Enzyme replacement therapy or asfotase alfa, a bone-targeted recombinant alkaline phosphatase, can improve clinical outcome and prognosis of the patients, particularly those with severe type of HPP. The complications of HPP may be life-threatening and contribute to higher mortality in youn...

Introduction: Growth hormone (GH) exerts its effect through insulin-like growth factor 1 (IGF-I), an intracellular signalling molecule whose production is stimulated by STAT-5b after binding to the growth hormone receptor. STAT-5b deficiency, is characterized by short stature, immune dysregulation and chronic lung disease. And these occur as a result of disruption of the growth hormone axis. Our case is an example of STAT-5b gene mutation, which is a rare dise...

Whole exome sequencing performed on a male patient with a unique complex phenotype revealed a novel de novo missense variant in FASN (c.6395C>T, p.A2132V), encoding Fatty Acid Synthase. The patient presented with panhypopituitarism (GH, TSH, LH, FSH and ACTH deficiencies), short stature, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay. He was 127 cm tall at the age of 21 and failed to respond to GH treatment [IGF-1 ge...

Introduction: Gynecomastia is common in boys at early-mid puberty, while prepubertal gynecomastia is a rare condition. Sertoli cell tumors (SCTs) account for 2% of prepubertal testicular tumors. Most of the SCTs in prepubertal boys, which are generally bilateral and diffuse, are in the content of Peutz-Jeghers Syndrome (PJS) or other familial syndromes (Carney complex). Large cell calcifying Sertoli cell tumor (LCCSCT) is a variant of SCT and is seen in PJS. I...