The CD44s Isoform is a Potential Biomarker for Predicting Craniopharyngioma Recurrence in Children.

Adamantinomatous craniopharyngioma (ACP) is an intracranial tumor considered partly malignant due to its ability to infiltrate surrounding structures and tendency to relapse despite radical resection. CD44 is a known stem cell marker in ACP and is upregulated in cell clusters of invasive ACP protrusions; however, the functions of its alternative splicing isoform variants, CD44s and CD44v1-10, have not yet been studied in terms of ACP recurrence, despite their confirmed roles in cancer development and progression. In this study, we first confirmed the difference in total CD44 expression between samples from patients who experienced relapse and those from patients who did not.

Subclinical hypothyroidism in children and adolescents as mild dysfunction of the thyroid gland: a single-center study.

Introduction: Subclinical hypothyroidism (SH) is a biochemical diagnosis made when a serum thyroid-stimulating hormone (TSH) is ele-vated with circulating thyroid hormone levels within their reference ranges.

Aim Of The Study: Aim of our prospective non-randomized study was to evaluate the course of SH.

Material And Methods: All patients with suspicion of SH referred to the Endocrinology Outpatient Clinic between 2014 and 2018 were recruited to prospective study.

Subclinical Hypothyroidism as the Most Common Thyroid Dysfunction Status in Children With Down's Syndrome.

Introduction: Thyroid dysfunctions are one of the most common abnormalities coexisting in children with Down's syndrome (DS) and have been reported in up to 54% of cases.

Aim Of The Study: The purposes of this retrospective study were to investigate the course of subclinical hypothyroidism in children with DS, to evaluate the thyroid function of these subjects in relation to the risk of developing overt thyroid disease and autoimmunity, and to identify clinical and biochemical characteristics of patients prescribed L-T4 therapy in children and adolescents with DS and SH.

Material And Methods: The records of DS patients referred to the Endocrinology Outpatient Clinic between 2010 and 2015 for screening of thyroid function were observed till the end of 2019 June and analyzed retrospectively.

Long-term follow up of carbohydrate metabolism and adverse events after termination of Omnitrope® treatment in children born small for gestational age.

Background: Recombinant human growth hormone (rhGH) therapy can affect carbohydrate metabolism and lead to impaired glucose tolerance during treatment. In addition, short children born small for gestational age (SGA) are predisposed to metabolic abnormalities. This study assessed the long-term safety of rhGH (Omnitrope®) use in short children born SGA.

Growth hormone therapy in children with partial growth hormone deficiency. Are we treating the right patients?

Introduction: Diagnosis of growth hormone deficiency (GHD) in children with short stature, whose height is below -2SD for the population norm, is based on the assessment of growth hormone (GH) peaks in stimulation tests. However, cut-off values for GH secretion are arbitrary and vary in different centres. Indications for recombinant GH therapy remain disputable in children with GH concentrations between 5 and 10 ng/ml (pGHD).

Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists.

Trichorhinophalangeal syndrome (TRPS) is rare genetic disorder with autosomal dominant inheritance. The TRPS1 gene is located on the long arm of the eighth chromosome (8q24.12).

Clinical and Biochemical Phenotype of Adolescent Males with Gynecomastia.

Objective: Gynecomastia is defined as a benign proliferation of male breast glandular tissue. Its prevalence during puberty varies between 50-60% and is also common in neonatal and elderly males. It develops mainly due to the disequilibrium between estrogen and androgen activity in breast tissue, where estradiol (E2) binds to estrogen receptors and stimulates ductal and glandular cells.

Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant - a case report.

Introduction: Resistance to thyroid hormone (RTHβ) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptorβ gene (THRβ).

[Myasthenia gravis, Graves-Basedow disease and other autoimmune diseases in patient with diabetes type 1 - APS-3 case report, therapeutic complications].

Diabetes type 1(T1D) is the most frequent form of diabetes in children and young people, which essence is autoimmune destruction of pancreatic B cells islet. Co-occurrence of other autoimmune diseases is observed in children with T1D, the most often are: Hashimoto disease or coeliac disease. We report the case of the patient, who presents coincidence of T1D with other rare autoimmune diseases such as: Graves - Basedow disease, myasthenia gravis, vitiligo and IgA deficiency.

Auxologic parameters and response to 2-year therapy with recombinant human growth hormone in growth hormone deficient children with an ectopic posterior pituitary.

Background: Structural defects of the hypothalamic-pituitary area in MRI are suggested as being a more accurate marker of growth hormone deficiency (GHD) than laboratory assays.

Objective: To compare auxological characteristics in GHD children with normal pituitary (NP) function and with ectopic posterior pituitary (EPP), prior to therapy with recombinant human growth hormone (rhGH), extending the follow-up to two years following treatment.

Design: Eighty-six (86) GHD patients were divided into two groups depending on the pituitary MRI: the EPP (23 children, 3.

Carbohydrate-lipid profile and use of metformin with micronized fenofibrate in reducing metabolic consequences of craniopharyngioma treatment in children: single institution experience.

Aim: To evaluate auxology and metabolic disturbances in children with craniopharyngioma, and to present observational results of treatment of metabolic sequels with metformin and micronized fenofibrate.

Methods: The studied group comprised 22 children [median age at diagnosis 10.5 (0.

How does autoimmune thyroiditis in children with type 1 diabetes mellitus influence glycemic control, lipid profile and thyroid volume?

Aim: To investigate whether autoimmune thyroiditis (AIT) in children with type 1 diabetes mellitus (DM1) has any influence on glycemic control, lipid profile or thyroid volume.

Methods: A total of 330 patients with DM1 and AIT (DM1+AIT group) were compared with 309 children with DM1 without AIT (control group). Patients were treated in four Polish academic pediatric diabetes centers from 2008 to 2012: Warsaw, Lodz, Katowice and Gdansk.

L-thyroxine stabilizes autoimmune inflammatory process in euthyroid nongoitrous children with Hashimoto's thyroiditis and type 1 diabetes mellitus.

Objective: To investigate if L-thyroxine (T4) treatment may influence the clinical course of autoimmune thyroiditis (AIT) or prevent progression to subclinical or overt hypothyroidism in euthyroid nongoitrous pediatric patients with type 1 diabetes mellitus (T1DM) and AIT.

Methods: The study was performed in four Polish pediatric diabetes centers. Of 330 children with T1DM and AIT followed between 2008 and 2012, 101 received L-T4 and 160 underwent clinical observation for 24 months.

The evaluation of function and the ultrasonographic picture of thyroid in children treated for medulloblastoma.

Purpose: Medulloblastoma (MB) is one of the most frequent and sensitive to radiation aggressive brain tumor in children. Abnormalities of the thyroid function are common complications of head and neck irradiation for childhood cancer. The aim of this study was to assess thyroid function in children treated for medulloblastoma according to the treatment protocol phase.

Usefulness of magnetic resonance findings of the hypothalamic-pituitary region in the management of short children with growth hormone deficiency: evidence from a longitudinal study.

Purpose: The purpose of this study is to assess the relationship between magnetic resonance images (MRI) of the hypothalamic-pituitary (H-P) region and response to recombinant human growth hormone (rhGH) treatment in short children with growth hormone deficiency, basing on changes of auxologic parameters, as well as to answer the question if MRI may serve for selecting and monitoring the rhGH responders.

Patients And Methods: The study group comprised 85 children treated with rhGH, aged 7.3-18.

Do children with Adams-Oliver syndrome require endocrine follow-up? New information on the phenotype and management.

Adams-Oliver syndrome (AOS) is a rare genetic condition in which the main diagnostic criteria are terminal transverse limb defects and aplasia cutis congenita. Within the spectra of the clinical phenotype of AOS, anthropometric abnormalities have also been reported. We present growth pattern along with hormonal assays in three patients with AOS, one being treated with growth hormone (GH).

Practical approach to childhood craniopharyngioma: a role of an endocrinologist and a general paediatrician.

Objectives: The objectives of this study are to evaluate co-morbidities in patients with craniopharyngioma and to elaborate an interdisciplinary protocol of the follow-up.

Patients And Methods: The group comprised 15 children (median age at the diagnosis, 10.1; mean follow-up period, 4 years).

[Coexistance of autoimmunological diseases with type 1 diabetes mellitus in young patients based on literature and own experience].

Patients with autoimmune type 1 diabetes mellitus have often, besides immune diabetic markers, also other organ-specific antibodies. In many diabetic patients autoimmune thyroid diseases, i.e.

[Causes of precocious puberty in children referred for evaluation in hospital conditions].

Introduction: Symptoms of precocious puberty (PP) in children always arouse anxiety in their parents. Many children with PP are being hospitalized for the detailed diagnostic work-up. The aim of our study was to analyze the frequency of the variants of PP in children referred to our department.

Angelman syndrome and hypothyroidism - coincidence or unique correlation?

Angelman Syndrome (AS, MIM 105830), classified among neurogenetic disorders, occurs with estimated frequency of 1:10 000 to 1:40 000. The characteristics features apart from neurodevelopmental impairment and seizures include peculiar face traits, absent speech, outburst of laughter, ataxia, stereotyped jerky (puppet-like) movements. The authors report three children with Angelman syndrome who were also diagnosed with hypothyroidism.

Growth hormone deficiency associated with moyamoya disease in a 16 year-old boy.

Moyamoya disease is a rare cerebrovascular disorder which, according to a few literature reports, can coexist with hypothalamic-pituitary dysfunction. We report a 16 year-old boy referred to our Department because of short stature and headaches. He additionally, at admission, presented discrete facial dysmorphy, bruxism, luxation of temporomandibular joint and cryptorchidism.

Effects of recombinant growth hormone therapy on thyroid hormone concentrations.

Background And Objective: There are numerous, often contradictory reports on the effects of growth hormone (GH) therapy on thyroid function. The aim of this study was to assess the effect of such therapy on serum concentrations of thyroid hormones in GH-deficient children euthyroid prior to the treatment, and to determine the necessity of thyroid hormone administration in these patients.

Material And Methods: The study included 32 GH-deficient patients in the first stage of sexual development, in whom disorders of thyroid function could be excluded.

[Congenital adrenal hyperplasia conditioned by 21beta-hydroxylase deficiency - clinical considerations].

The authors of the paper present three cases of nonclassical forms of congenital adrenal hyperplasia conditioned by 21 beta-hydroxylase deficiency occuring within the same family. They point out significant difficulties related to the detection of such anomalies, and they analyse in detail clinical symptoms occuring in this disease entity.

[GnRH-dependent precocious puberty in a boy with Leydig-cell tumor].

GnRH-dependent precocious puberty in a boy with Leydig-cell tumor is presented. Precocious activation of the hypothalamo-pituitary axis was caused by long-term exposition to sex-steroids. Long-acting LHRH-analog treatment suppressed the process of precocious puberty.

[Ultrasound examination of the scrotum in boys].

Background: Ultrasound examination is applied in the objective evaluation of size of scrotal structures as well as in diagnosing focal and inflammatory lesions in testes and epididymis.

Aim: The aim of our study is to point out the necessity and significance of the ultrasound in diagnostics of abnormalities within the scrotum in boys.

Material And Methods: The examination included 180 boys, aged 2-17 years, referred because of gynecomastia (70), cryptorchism (45), precocious puberty (11), palpable thickenings of the spermatic cord (30) and asymmetry of testicular size (24).