ESPE Abstracts

Introduction: 49XXXXY syndrome is the rarest X chromosome aneuploidy with an approximate incidence of 1: 85 000–100 000 male births. The classic triad of symptoms include mental retardation, hypogonadism and radioulnar synostosis along with congenital heart diseases; Patent Ductus Arteriosus being the commonest defect reported, Distinct facial features, skeletal defects, cerebral and renal defects. To the best of our knowledge this is the first reported case of 49XXXXY sy...

Objective: To determine the clinical characteristics of patients who underwent gonadectomy from low middle income country.Method: Retrospective data was obtained from children who are followed up in a single center since 2013Results: There were nine patients who underwent bilateral gonadectomy. Age at presentation varied from 8 years to 15 years. Seven patients (77%) underwent surg...

McCune Albright Syndrome is a rare disease characterized by classic triad of polyostotic fibrous dysplasia, café-au-lait spots and endocrine dysfunction and out of them cushings syndrome is a fatal manifestation which might need bilateral adrenalectomy. We report a 6 months old baby who presented to Paediatric Endocrinology Unit due to elevated alkaline phosphatase levels while investigating for failure to thrive, hypotonia and global developmental delay. This child was...

Background: Virilizing congenital adrenal hyperplasia (CAH) is a complex disorder which requires a multidisciplinary approach. Exact timing of genitoplasty in children with virilization varies on the available resources, patients’ perspectives, and cultural influences. This study is aim ed to assess surgical interventions based on the degree of virilization in girls with congenital adrenal hyperplasia from a single center.M...

Introduction: Familial chylomicronemia syndrome (FCS) is an extremely rare monogenic disease with a prevalence of 1-2:1,000,000. Defects in lipoprotein lipase (LPL) are the main cause. Recurrent acute pancreatitis is a life-threatening complication of FCS. Insulin therapy is known to be a mode of treatment for hypertriglyceridemia.Case series: We present four children with genetically confirmed LPL deficiency followed up...

The Wilms' Tumour (WT1) gene is thought to play an important role in nephrogenesis, genitourinary development, and sex determination. We report three cases followed up in a tertiary care center in Sri Lanka. All three patients were referred for evaluation of ambiguous genitalia (stretched penile length <= 2cm, penoscrotal hypospadiasis in all three patients. Patient one had bilateral palpable testes in inguinal canal. Patients two and three did not have any palpable te...

Background: To understand the quality of information that is available in the I-DSD Registry (https://sdmregistries.org/), this study aim ed to understand the extent of information that is available on the phenotype of the external genitalia in males that have been included with a condition associated with a suspected hypogonadal state and DSD.Methods: A total of 3,248 m...

McCune Albright syndrome (MAS) is rare with a prevalence of 1 in 100,000 to 1 in 1,000,000, characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait skin pigmentation, and hyperfunctioning endocrinopathies caused by somatic activating mutations of the GNAS1 gene encoding the α subunit of guanine nucleotide-binding protein. Here we are reporting three cases of MAS who are actively being followed up in a leading Children’s Hosp...