hrp0086s9.1 | Recent advances in congenital adrenal hyperplasia | ESPE2016

Long-term Health in Congenital Adrenal Hyperplasia: Lessons from a National Study

Nordenstrom Anna

Congenital adrenal hyperplasia (CAH) is lethal in its most severe forms if not treated with glucocorticoids. However, glucocorticoids may increase the cardiovascular and metabolic morbidity. The long term outcome in CAH was studied using the Swedish national CAH registry, 588 patients 335 females and 253 males, >80% with known severity of CAH; were compared with 100 controls per patient matched for sex, and year and place of birth. Information on mortalty, cause of death, ...

hrp0086wg1.6 | ESPE Disorders of Sex Development Working Group (DSD) | ESPE2016

Fertility in Persons with DSD, Results From the dsd-LIFE Study

Nordenstrom Anna

Introduction: Disorders of sex development (DSD) describes conditions affecting gonadal and adrenal function and therefore to large extent affect fertility. In some cases the gonads have been removed due to risk of malignancy. Information to the patients about their fertility and treatment options have not been optimal in the past.Objective: To describe fertility outcome in the different diagnostic groups of DSD and to assess to what extent assisted repr...

hrp0086p2-p767 | Pituitary and Neuroendocrinology P2 | ESPE2016

Congenital Hypopituitarism in a Patient with 18p- Syndrome

Bolmasova Anna , Melikian Maria , Degtyareva Anna

Background: 18p- syndrome is very rare (1:50000 live-born infants). Hypopituitarism as part of the syndrome is found in 13% of cases. Here we present a case of congenital hypopituitarism in a girl with 18p- syndrome.Objective and hypotheses: Description of a rare clinical case of congenital hypopituitarism as a feature of 18p- syndrome.Method: Hormonal and biochemical blood tests, MRI, karyotyping, echocardiogram, specialists’...

hrp0094p2-327 | Growth and syndromes (to include Turner syndrome) | ESPE2021

A case of a Floating-Harbor syndrome in a child with severe short stature.

Prosvirnina Anna , Bolmasova Anna , Melikyan Maria ,

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 224...

hrp0084p2-209 | Bone | ESPE2015

Sclerostin and Its Associations with Energy Metabolism in Children and Adolescents

Wedrychowicz Anna , Starzyk Jerzy

Background: The recent evidence has shown that the skeleton can in turn affect carbohydrate metabolism.Objective and hypotheses: To analyse associations between serum level of sclerostin and as well other bone-related molecules as adipokines and some markers of glucose and lipid metabolism in children and adolescents.Method: 57 patients, 40 with type 1 diabetes mellitus (T1DM), 17 with obesity, and 11 control, healthy age- and BMI-...

hrp0086p2-p153 | Bone & Mineral Metabolism P2 | ESPE2016

Evaluation of ALP Value in Early Prediction of the Effects of Growth Hormone Treatment in Children with Growth Hormone Deficiency (GHD)

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: Serum bone turnover markers may serve as parameters for predicting the growth response to growth hormone (rhGH) treatment.Objective and hypotheses: Assessment of the alkaline phosphatase (ALP) value in early prediction of the effects of rhGH treatment in children with growth hormone deficiency.Method: The study group consisted of 50 children with GHD. ALP, bone-ALP, vitamin D and I...

hrp0084p3-916 | GH & IGF | ESPE2015

Vitamin D Deficiency can Modulate GH/IGF1 Axis in GH Deficient Children

Witkowska-Sedek Ewelina , Kucharska Anna , Majcher Anna , Pyrzak Beata

Background: According to the latest studies vitamin D has an effect on the production and/or secretion of IGF1 in the liver, but the exact mechanism regulating these relationships has not been thoroughly explained.Objective and hypotheses: Evaluation of the relationship between 25(OH)D and IGF1 levels in the serum of children with GH deficiency (GHD).Method: The study group consisted of 76 GH deficient children qualified for GH the...

hrp0092p1-264 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Regulation of CBX2 Transcription in Human Development

Hart Dirk , Biason-Lauber Anna

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD...

hrp0089p3-p023 | Adrenals and HPA Axis P3 | ESPE2018

Secondary Hyperaldosteronism in the Course of Cystic Fibrosis

Erazmus Michał , Kucharska Anna

The electrolyte disorders are commonly considered as symptoms of the endocrine diseases concerning the secretion of aldosterone or antidiuretic hormone (ADH). This study is the case report of the 6-month-old girl admitted to the hospital because of the exacerbation of the chronic cough. Failure to thrive and malnutrition was also significant despite the patient’s good appetite reported by parents. She was referred to the department of the paediatric endocrinology due to m...

hrp0089p1-p213 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Insights in Promoter Transactivation of CBX2 Expression

Hart Dirk , Biason-Lauber Anna

Background: The process of sexual differentiation is critical for reproduction in nearly all metazoan. Defects in any of the genes involved in either testicular or ovarian development can result in disorders of sex development (DSD). CBX2/M33 is a chromatin modifier that plays an important role in sexual development and its disorders, highlighted by the fact that M33-deficient mice have male-to-female sex reversal and loss-of-function of CBX2 causes 46, XY DSD in humans. Human...