hrp0098p1-292 | Thyroid 3 | ESPE2024

Congenital autoimmune thyreoiditis with hypothyroidism: first expression of a STAT-3-associated multisystemic disease with further severe autoimmune manifestations

Ververidou Ourania , Lainka Elke , Kampmann Kristina , Steindor Nora , Schäfer Miriam , Manka Eva , Korsch Eckhard , Kiewert Cordula

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...

hrp0097p2-276 | Late Breaking | ESPE2023

Olfactory bulbs and genetic defects in adolescents with Kallmann syndrome and normosmic hypogonadotropic hypogonadism

Kokoreva Kristina , Chugunov Igor , Bezlepkina Olga

Objective: to assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 patients with Kallmann syndrome...

hrp0098p3-255 | Thyroid | ESPE2024

Encephalopathy in Hashimoto's Thyroiditis: A Case Report

Arbatauskaite Laura , Galinyte Kristina , Navardauskaite Ruta

Introduction: Hashimoto's autoimmune thyroiditis is the primary cause of acquired hypothyroidism, with encephalopathy being a rare complication, particularly in children. Early and accurate diagnosis is crucial, as appropriate treatment is usually successful, while untreated cases can result in permanent impairment.Case presentation: A 17-year-old girl complained of numbness on the right side of her body and tongue,...

hrp0089p3-p051 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Clinical and Genetic Evaluations of Three Patients with Vitamin D Dependent Rickets Type 1A

Kulikova Kristina , Kolodkina Anna , Vasiliev Eugeny , Petrov Vasily , Tiulpakov Anatoly

Vitamin D dependent rickets type 1A (VDDR-IA) is inherited in an autosomal recessive pattern and caused by mutations in CYP27B1 gene encoding enzyme 1α-hydroxylase. Deficiency of 1α-hydroxylase leads to decrease of 1,25(OH)2 vitamin D production. VDDR-IA usually manifests clinically during the 1st year of life. Clinical features of VDDR- IA include progressive growth retardation, hypotonia, rachitic skeletal deformities, hypocalcemic seizures in early infancy. Serum ...

hrp0084p1-135 | Turner & Puberty | ESPE2015

Sex Hormones and Gonadal Size in Pubertal Girls Born Small or Appropriate for Gestational Age

Petraitiene Indre , Verkauskiene Rasa , Jariene Kristina , Vitkauskiene Astra

Background: Small for gestational age (SGA) birth size has been associated with various metabolic, hormonal and reproductive problems in later life.Objective and hypotheses: We aimed to compare differences in sex hormones, uterine and ovarian sizes in SGA and appropriate for gestational age (AGA) adolescent girls.Method: 23 SGA and 47 AGA pubertal 11–14 years old girls (median age 13.2±1.94 years, median pubertal stage 4&...

hrp0098p2-222 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Genetic and clinical heterogenicity in Russian adolescents with congenital isolated hypogonadotropic hypogonadism

Kokoreva Kristina , Chugunov Igor , Volevodz Natalia , Bezlepkina Olga , Peterkova Valentina

Background: Congenital isolated hypogonadotropic hypogonadism (СIHH) is a clinically and genetically heterogenous disorder characterized by absence or abnormal gonadotropin-releasing hormone secretion (GnRH). Adolescents with CIHH have complete or partial pubertal failure. Pathogenic variants in more than 60 genes have been associated with CIHH. CIHH can be complete, partial or reversal. Boys with CIHH may have micropenis and cryptorchidism. Except reprodu...

hrp0098p3-234 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Clinical case of rare association of Treacher Collins syndrome with micropenis and unilateral cryptorchidism in Russian patient

Kokoreva Kristina , Pisareva Elena , Zyuzikova Zinaida , Volevodz Natalia , Peterkova Valentina

Objective: Treacher Collins syndrome (TCS) is rare autosomal dominant genetic condition characterized by the following features of the head and face: absence of the ears, down-slanting palpebral fissures, eyelid colobomas, microtia, bilateral choanal atresia and etc. Prevalence of TCS is from 1 per 25,000 to 1 in 50,000 live births. Most of TCS patients don’t have endocrine disorders that is why endocrinologists are not familiar with this condit...

hrp0095p2-5 | Adrenals and HPA Axis | ESPE2022

Prevalence and genotype of 21-hydroxylase deficiency in Croatian Romani population

Dumic Kubat Katja , Grubic Zorana , Kusec Vesna , Braovac Duje , Gotovac Kristina , Vinkovic Maja , Dumic Miroslav

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...

hrp0092p3-224 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Clinical and Laboratory Characteristics of Different Various Types of Gonadal Dysgenesis in Girls with Hypergonadotropic Hypogonadism

Kabolova Kseniya , Oleg Latyshev , Lubov Samsonova , Elena Kiseleva , Goar Okminyan , Kristina Kokoreva , Elvira Kasatkina

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...

hrp0084p3-988 | Gonads | ESPE2015

Further Expansion of the CHARGE Geno-Phenotype: A Girl with a Novel Deletion of CHD7 and with the Combination of Hypogonadotropic Hypogonadism and Agenesis of Internal Genitalia

Reynaert Nele , de Zegher Francis , Devriendt Koenraad , Francois Inge , Beckers Dominique , Casteels Kristina

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...