ESPE Abstracts

Introduction: Thyroid disorders are the second commonest endocrine dysfunctions encounter in pregnancy after Diabetes. These include overt hypothyroidism, overt hyperthyroidism, subclinical hypothyroidism and subclinical hyperthyroidism. Pregnancy has profound impact on the thyroid gland and thyroid functions (TF). Failure to adapt to these physiological changes result in abnormal TF and cause adverse foetal and neonatal outcomes like miscarriages, placental a...

Introduction: Hypopituitarism leads to one or more pituitary hormones deficiency. Hypopituitarism can be congenital or acquired. The incidence of congenital hypopituitarism is between 1 in 4000 and 1in 10 000 live births. Children with congenital hypopituitarism may present with hypoglycemia, hyponatremia, shock, micro phallus in males, and later present with growth failure. It can be due to congenital or acquired causes. Adamantinomatous type craniopharingiom...

Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous geni...

Background: Hyperkalaemia, defined as potassium levels above 5.5 mmol/L, is a potentially life-threatening condition commonly seen in congenital adrenal hyperplasia (CAH). Pseudohyperkalaemia is a false elevation of potassium observed in vitro, caused by potassium moving out of cells (erythrocytes, leukocytes, or platelets) during or after blood sampling. This is often linked to high platelet counts (>450 × 10^9/L), due to potassium release from activ...

Introduction: Early initiation of diazoxide (DZX) treatment in neonates with HH can prevent permanent hypoglycaemic brain injury. The DZX standard therapeutic dose (STD) is 5 mg/kg/day, and rarely associated with adverse events. There are limited data for the effectiveness and safety of DZX low-dose (<5mg/kg/day) for the treatment of HH neonates.Aim: To assess efficacy and safety of low-dose DZX in HH newborns.<p ...

Introduction: Excessive androgen secretion from gonads, adrenal gland and tumors arising from germ cells lead to gonadotropin independent precocious puberty in male and virilization in females. Rapid progression of symptoms with peripheral precocity need urgent evaluation to identify the underlying etiology. We report three cases of malignancy with excess androgen secretion within a year in a tertiary care children hospital in Sri Lanka....

Background: Turner’s syndrome (TS) is the most common genetic disorder in females affecting approximately 1 in 2500 live female births as a result of partial or complete X chromosomal monosomy. TS mostly affect skeletal, cardiovascular, endocrine and reproductive systems. Girls with TS present with short stature and dysmorphic features such as webbed neck and delayed puberty. Age at diagnosis of children with TS is extremely important to start growth hormone at younger ag...

Background: Secondary amenorrhoea occurs in approximately 8% of adolescent females. Ovarian and adrenal tumours are rare causes of secondary amenorrhoea. Ovarian Sertoli-Leydig cell tumours (SLCT) are rare sex-cord stromal tumours of the ovary, accounting for <0.5% of all primary ovarian neoplasms. SLCTs affect all age groups, 75% detected in second and third decade of life (mean age 25 years) and <10% detected following menopause. Testicular-like tumour...

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...