hrp0094p1-9 | Adrenal A | ESPE2021

Backdoor Pathway hormones and 11-oxygenated Androgens are elevated in Patients with 21-hydroxylase deficiency

Kulle Alexandra , Lamprecht Tabea , Pinto Francisca , Wulf Kristina , Hornig Nadine , Reinehr Thomas , Holterhus Paul-Martin ,

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 ...

hrp0094p1-154 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

The Evaluation of Accuracy and Effectiveness of Newborn Screening for Congenital Adrenal Hyperplasia in Lithuania

Navardauskaite Ruta , Baneviciute Kornelija , Mockeviciene Giedre , Songailiene Jurgita , Grigalionienė Kristina , Smirnova Marija , Utkus Algirdas , Verkauskiene Rasa ,

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...

hrp0094p2-431 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combination therapy of hypogonadotropic hypogonadism with rFSH and hCG – case report

Kokoreva Kristina , Latyshev Oleg , Okminyan Goar , Kiseleva Elena , Samsonova Lyubov , Kasatkina Elvira , Brzhezinskaia Lyubov

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...

hrp0094p2-440 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Combination therapy of hypogonadotropic hypogonadism in boys with rFSH and hCG – case reports analyses

Kokoreva Kristina , Latyshev Oleg , Samsonova Lyubov , Kiseleva Elena , Okminyan Goar , Kasatkina Elvira , Brzhezinskaia Lyubov

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...

hrp0094p2-364 | Pituitary, neuroendocrinology and puberty | ESPE2021

Congenital hypogonadotropic hypogonadism associated with X-linked ichthyosis due to X-chromosome microdeletion identified by chromosomal microarray

Kokoreva Kristina , Chugunov Igor , Kalinchenko Natalia , Latyshev Oleg , Samsonova Lyubov , Bezlepkina Olga ,

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...

hrp0097p1-586 | Thyroid | ESPE2023

Hyperthyroidism caused by severe bacterial infection

Flury Monika , Gita Gemulla , Reichardt Susen , Stamos Kristina , Taut Heike , Hahn Gabriele , Huebner Angela

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. ...

hrp0092p2-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of 168 Russian Patients with Hypophosphatemic Rickets

Kulikova Kristina , Kolodkina Anna , Vasiliev Evgeny , Petrov Vasilij , Kenis Vladimir , Petrov Michael , Korkin Anatoly , Gofman Fedor , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. Taking info account the latest advances in HR therapy, it now becomes of interest to better define the mutational and phenotypic spectra of disease.Objective and Hypotheses: The aim of this study was to clinically characterize and perform genetic analysis of 168 cases with HR.<p class="a...

hrp0089p1-p029 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Fracture Epidemiology for Children in Western Australia between 2005–2015: Do We Need to be Concerned about Bone Health?

Jenkins Mark , Nimphius Sophia , Hart Nicolas , Chivers Paola , Rantalainen Timo , Ruter Kristina , Borland Meredith , McIntyre Fleur , Stannage Katherine , Siafarikas Aris

Aim: Western Australia is a state with unique geography and population distribution having only a single tertiary paediatric hospital (Princess Margaret Hospital, PMH in Perth) managing the majority of children and adolescents with fractures in the Emergency Department (ED). Fracture incidence in 0–16 year olds is known to be high and varies between countries with boys having a 1.5 fold higher fracture incidence than girls. There are no specific data for Australia. The ai...

hrp0089p2-p363 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

The Human Genital Tubercle is Steroidogenic Organ at Earlypregnancy

Savchuk Iuliia , Morvan Marie-Line , Philippe Antignac Jean , Gemzell-Danielsson Kristina , Le Bizec Bruno , Soder Olle , Svechnikov Konstantin

It is generally accepted that androgens produced by fetal Leydig cells (FLC) control proper masculinization of the male external genitalia. Here, we hypothesized that the human genital tubercle (GT) has potential to synthesize androgens independently of FLC at early pregnancy. We observed that human GT of both genders have capacity to synthesize steroids of the Δ4, Δ5 and alternative pathway of DHT synthesis including the androgen itself. The presence of steroids in ...

hrp0084p2-217 | Bone | ESPE2015

The Spectrum of Molecular Defects in 64 Patients with Hypophosphatemic Rickets Identified by Targeted Next-Generation Sequencing

Kulikova Kristina , Kolodkina Anna , Vasilyev Evgeny , Petrov Vasily , Gofman Fedor , Horkin Anatoly , Kenis Vladimir , Petrov Michael , Tiulpakov Anatoly

Background: Hypophosphatemic rickets (HR) comprises a group of inherited forms of rickets characterised by renal phosphate wasting. To date more than 10 genes are associated with HR, and a comprehensive molecular diagnosis in these disorders is technically difficult to perform.Objective and hypotheses: To assess the value of targeted next-generation sequencing (NGS) used for molecular analysis of candidate genes of HR.Method: 64 pa...