ESPE Abstracts

Objective: Clustering of rare diseases and private founder mutations is a common phenomenon in many founder populations such as Romani. Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency (21-OHD) is a rare autosomal recessive disorder caused by mutations in the CYP21A2 gene. The aim of the study was to estimate the prevalence of 21-OHD and the frequency of particular CYP21A2 gene mutations in the Croatian Romani population. Methods. Data f...

Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometri...

Background: CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation in CHD7. Hypoplasia of the genitalia is a common feature and is most often attributable to hypogonadotropic hypogonadism which is described in 81% of the males and 93% of the female patients. Other genital anomalies are rare. Combined agenesis of the uterus and ovaries is so far only reported in one patient with sus...

Background: Patients with 21-Hydroxylase deficiency (21OHD) present increased levels of cytochrome P450 21-hydroxylase substrates, like progesterone and 17α-hydroxyprogesterone. Previous studies could show that these hormones are involved in the production of androgens via the backdoor pathway. As a second source of androgens, 11-oxyandrogens derived from the human adrenal glands are recognized as being major androgens. Specifically, 11-oxyandrogens ...

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

Objective: assess advantages and disadvantages of the treatment of hypogonadotropic hypogonadism (HH) with rFSH and hCG.Materials: We report the case of а 16-year old patient with complaints of no development of secondary sexual characteristics. Patient was 174 cm (SDS growth 0.25 SD, SDS growth velocity 1.62 SD, SDS BMI -0.4 SD, target height correction 1.01 SD) with Tanner G1 P1 (penis length was 5 cm). Laboratory studies included LH < 0.1 m...

Objective: to evaluate combination replacement therapy (CRT) with rFSH and hCG of hypogonadotropic hypogonadism (HH) in boys appropriateness and effectiveness.Materials: 1 boy with isolated HH (№1) and 2 boys (№2,3) with HH caused by hypopituitarism (HP) included. Antropometric data, Тanner; testosterone (T), LH, FSH, inhibin B, anti-Mullerian hormone (AMH), testicular volumes (TV), bone age (BA) evaluated in all patients. GnRH agonis...

Objective: to assess diagnostic usefulness and accuracy of different tools in patients with Kallmann syndrome and ichthyosis due to X-chromosome microdeletion.Materials: &scy;ongenital hypogonadotropic hypogonadism due to KAL1 pathological variants manifest with micropenis, cryptorchidism, delay of puberty, and not associated with disorder of sex development. This condition can be associated with ichthyosis due to deletion of X chromosome region with genes KAL...

We report on a nearly 4-year-old girl who presented to the emergency room of our paediatric clinic with high fever and poor general condition, swelling of the neck and swallowing difficulties. Laboratory chemistry showed a marked hyperthyroid metabolic state, so that initially a thyrotoxic crisis in Graves' disease was considered (TSH 0.03 mU/L (-), fT4 28.10 pmol/l (+)). Therefore, a short-term therapy with thiamazole was given. The thyroid autoantibodies were negative. ...

Context: The early activation of adrenal zona reticularis, denoted by increased circulating levels of adrenal androgens before the age of eight years in girls is called premature adrenarche (PA), while the concomitant appearance of pubic hair is termed premature pubarche (PP). Girls with PA-PP display an unfavorable metabolic, hormonal and psychologic profile, compared to their normal peers and are also at an increased risk of developing polycystic ovary syndrome (PCO...