hrp0084p3-782 | DSD | ESPE2015

The Time of First Presentation at the Department of Paediatric Endocrinology of Patients with 46, XY DSD

Kolesinska Zofia , Niedziela Marek

Background: The atypical appearance of the external genitalia in a neonate, defined as the external masculinization score (EMS) less than 11, should incline the clinicians to perform diagnostic procedure ideally managed by a multidisciplinary team in a tertiary centre. Among the patients with disorders of sex development (DSD), the most challenging subgroup in terms of aetiology, is the subgroup with 46, XY karyotype.Objective and hypotheses: To study th...

hrp0086p2-p166 | Bone & Mineral Metabolism P2 | ESPE2016

Diversity in Phenotype of Two Siblings and their with X-Linked Hypophosphatemic Rickets due to PHEX Mutation

Rojek Aleksandra , Kolesinska Zofia , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. The dominant form of X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene. XLHR phenotype is characterized mainly by rickets, bone deformities, short stature, dental anomalies, hypophosphatemia, low renal phosphate reabsorption, normal serum calcium level, hypocalciuria, normal/low serum level of vitamin D (1,25(O...

hrp0082p1-d1-202 | Reproduction | ESPE2014

Genetic Markers in the Study of Chromosome Y in the Population of Girls with Turner Syndrome

Rojek Aleksandra , Obara-Moszynska Monika , Rabska-Pietrzak Barbara , Kolesinska Zofia , Niedziela Marek

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...

hrp0082p3-d2-684 | Bone (1) | ESPE2014

Clinical Phenotype and Molecular Studies in Patients with Hypophosphatemic Rickets

Obara-Moszynska Monika , Rojek Aleksandra , Kolesinska Zofia , Slomko-Jozwiak Malgorzata , Niedziela Marek

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...

hrp0082p3-d1-953 | Sex Development | ESPE2014

The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies

Kolesinska Zofia , Rojek Aleksandra , Kedzia Helena , Blaszczynski Michal , Latos-Bielenska Anna , Kapczuk Karina , Niedziela Marek

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

hrp0097p1-351 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Kallmann syndrome as a manifestion of tubulinopathies - a boy with newly defined TUBB3 R262H syndrome.

Folga Barbara , Winczewska-Wiktor Anna , Smigiel Robert , Niedziela Marek , Kolesinska Zofia

Background: Microtubules, polar polymers of αβ-tubulin heterodimers, constitute dynamic cytoskeletal structures implicated in the regulation of axonal activity along with neuronal proliferation and migration. Tubulinopathies, caused by pathogenic variants in genes encoding different isotypes of tubulin, lead to a wide and overlapping range of nervous system malformations and neurodevelopmental disorders. Namely, heterozygous missense and nonsense mu...

hrp0095p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Puberty patterns in boys with X-linked congenital adrenal hypoplasia.

Kolesinska Zofia , Rojek Aleksandra , Malecka Elzbieta , Slomko-Jozwiak Malgorzata , Obara-Moszynska Monika , Banaszak-Ziemska Magdalena , Niedziela Marek

Background: X-linked congenital adrenal hypoplasia (adrenal hypoplasia congenita, AHC) is a rare life-threating disorder due to pathogenic variants in the NR0B1 gene. It encodes DAX-1, an orphan nuclear hormone receptor, that acts as a transcription factor and is expressed in the adrenals and hypothalamus-pituitary-gonadal (HPG) axis. Therefore, apart from primary adrenal insufficiency, patients present incomplete or absent puberty and infertility due...

hrp0095p1-347 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital hypogonadotropic hypogonadism and Cornelia de Lange Syndrome share clinical phenotype and genetic background

Kolesinska Zofia , Xu Cheng , Messina Andrea , Acierno James , Niederlander Nicolas , Santoni Federico , Papadakis Georgios , Pignatelli Duarte , Avbelj Stefanija Magdalena , Smith Kimberly Keefe , Balasubramanian Ravikumar , Crowley William , Pitteloud Nelly

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...

hrp0089p2-p361 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Towards an Integrated Approach to Diagnosis of 46,XY Disorder of Sex Development

Kolesinska Zofia , Acierno James Jr , Faisal Ahmed S. , Kapczuk Karina , Skorczyk-Werner Anna , Mikos Hanna , Rojek Aleksandra , Krawczynski Maciej , Pitteloud Nelly , Niedziela Marek

Background and objective: Given phenotype variability as well as limited utility of conventional endocrine investigations in reaching the diagnosis in a 46,XY patient suspected of a disorder of sex development (DSD), there is an increasingly stronger argument for considering targeted genetic sequencing at an earlier stage of the evaluation process. This study focused on identifying the relationship between clinical examination, endocrine and radiological assessment, as well as...

hrp0095fc9.4 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Delayed puberty: unraveling the different trajectories and contributions of AI

Antoniou Maria-Christina , Xu Cheng , Zouaghi Yassine , Papadakis Georgios , Stoppa-Vaucher Sophie , Kolesinska Zofia , Bouthors Thérèse , Lore Ruiz Arana Inge , Elowe-Gruau Eglantine , Phan-Hug Franziska , Pasquier Jerôme , Adamo Michela , Deladoey Johnny , Vuissoz Jean-Marc , Busiah Kanetee , Hauschild Michael , Santoni Federico , Acierno James , Pitteloud Nelly

Introduction: Differentiation between constitutional delay of growth and puberty (CDGP) and congenital hypogonadotropic hypogonadism (CHH) during early adolescence is challenging, as patients exhibit a similar clinical picture and there are no definite clinical or biochemical markers that distinguish these 2 pathologies. A delay in diagnosis, especially for CHH, may have short and long-term health consequences. The aims of this study were: 1) To evaluate the u...