ESPE Abstracts

Rendu-Osler-Weber syndrome (also called Hereditary Haemorrhagic Teleangiectasia) is an autosomal dominant disorder that results from multisystem vascular dysplasia. HHT syndrome has been described in association with autoimmune disorders, such as Hashimoto thyroiditis, lupus erythematosus, vitiligo, anti-phospholipidic syndrome and pernicious anaemia.We present the case of a 6 year old girl with Rendu-Osler-Weber syndrome who was referred for endocrinolo...

Background: Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia, characterized by lack of synthesis of all kinds of steroids in adrenals and gonads due to defects in gene of Steroidogenic Acute Regulatory protein (StAR). 46,XX patients can have a spontaneous puberty due to residual estrogen synthesis by a StAR-independent pathway in ovary. Development of ovarian cysts may be derived from persistent anovulation and impairment o...

Background: Introital stenosis is the main complication of vaginoplasty in females with Congenital Adrenal Hyperplasia (CAH) which could result from poor estrogenization of vaginal tissue during puberty.Objective and hypotheses: To evaluate the maturation of vaginal mucosa depending on the degree of compensation.Method: 19 adolescent girls with CAH (salt-wasting (SW) – 9, simple virilizing (SV) – 10; 15.9 years (14.4, 16....

Background: Unlike to adults, the side effects of long-term administration by amiodarone (A) of life-threatening arrhythmias (LThA) on thyroid function still is not studied exactly in children.Methods: Twenty-six children with LThA aged 1 week to 16 years (mean 10 years) treated by A were examined. The mean duration of oral treatment ranged from 1 month to 47 months (mean 12.5 months). We estimated serum level of T4, T3, TSH, antibo...

Background: Congenital adrenal hyperplasia (CAH) is a disorder, leading to hyperandrogenaemia in the period of organogenesis of external genitalia, resulting in the disorders of sex development(DSD) in 46XX patients where external and internal genitalia do not correspond to each other. The aim of current work is to show the barriers and challenges in a 46XX patient in choosing the sex for up-bringing the child.Case presentation:<...

Background: SIDM is not a common complication of high-dose glucocorticoid therapy (HD-GC) in pediatric practice. There are no clear generally accepted approaches to SIDM treatment. In 10 cases, we present the identified patterns of predictors, course, features of the treatment of SIDM in children and adolescents.Methods: 10 case histories of children with SIDM were analyzed. 4 boys, 6 girls, age 8-17.5 years, median 15 y...

Growth retardation in children with type 1 diabetes (T1D) is mostly associated with longterm poor metabolic control or combination with other autoimmune diseases. Although rare it could be due to growth hormone deficiency. We present eleven-year-old girl, diagnosed with T1D at age of 2y6mo., on multiple daily injections (MDI) with analogues. She is raised in poor social conditions – low parental education and income, rare follow-up due to difficult access to healthcare p...

The role of insulin-like growth factor-1 (IGF-1) in the regulation of growth of children with intrauterine growth is currently being discussed, but the final point of view has not been achieved.Aim: to study the effect of IGF-1 in the dynamics of postnatal growth of premature infants with SGA in the first 5 years of life.Material and Methods: The prospective study included prematurity with SGA (gro...

Prematurity combined with intrauterine growth retardation (small to gestational age, SGA) is a potential risk factor for adverse growth prognosis. There is insufficient evidence on this issue.Aim: to study the growth rates in preterm infants born small to gestational age, different gestational age in the first 5 years of life.Material and Methods: The prospective study included preterm infants with...

Background: Human HSD11B2 metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. Loss of function mutations in HSD11B2 gene cause a rare autosomal recessive disorder, apparent mineralocorticoid excess, resulting in low-renin hypertension and hypokalemia.Objective: We present 2 children with apparent mineralocorticoid excess. Case 1, a boy presenting at 11 yea...