Beata Wikiera

Evaluation of hearing organ in patients with Turner syndrome

UNLABELLED Hearing loss and middle ear diseases are often reported in some of Turner patients. In most of the reports hearing organ was evaluated with the use of subjective methods. The aim of the work was subjective and objective evaluation of hearing organ with an attempt to set the correlation between the results and the genotype of the patients with Turner syndrome (Ts). MATERIAL 51 Ts patients aged 14.3 years on average. There were 29 girls with monosomy X and 22 having mosaicism. A detailed medical history was taken in each case with attention given to the hearing loss risk factors. METHOD Physical ENT examination, hearing evaluation: pure tone audiometry, impedance audiometry, distortion products otoacoustic emissions (DPOAEs), brain auditory evoked potentials (BAEP). The control group consisted of 30 healthy patients. RESULTS Recurrent acute otitis media was reported by 19.6% of Ts patients. Pure tone audiometry was improper in 36.3% ears; conductive hearing loss was present in 11.7% ears, mixed hearing loss in 5.9% ears and the moderate sensorineural hearing loss in 18.6% ears. Impedance audiometry was impaired in 14.7% of the cases. DPOAE disturbances were present in 41.4% of Ts patients, BAEP was improper in 52.0%. The percentage of the disturbances in DOPAEs and in BAEP in patients with mosaicism was 45.4 and 40.9% while in patients with monosomy 68.9 and 62%. CONCLUSIONS Ts patients present predisposition to hearing disturbances. The disturbances seem to be connected with middle ear infections and with sensorineural hearing losses. Hearing loss in Ts women is not clinically apparent in most of the cases; this fact reflects the need of early evaluation and further monitoring of hearing organ in those patients. Sensorineural hearing loss seems to prevail in patients with 45,X genotype, so perhaps attention should be paid to this subgroup of Ts patients.

The presence of eye defects in patients with Turner syndrome is irrespective of their karyotype.

Published data on eye disorders in patients with Turner syndrome (TS) are limited. We aimed to evaluate the prevalence of eye disorders in patients with TS and assess the association with patient karyotype.

LPL gene mutation as the cause of severe hypertriglyceridemia in the course of ketoacidosis in a patient with newly diagnosed type 1 diabetes mellitus.

INTRODUCTION Severe hypertriglyceridemia is a condition associated with extremely high triglycerides (TG) plasma concentrations exceeding 1000mg/dl. This condition may result in mutations in genes encoding lipoprotein lipase (LPL), apolipoprotein C2 (APOC2) and apolipoprotein A5 (APOA5) characterized by an autosomal recessive inheritance pattern. AIM A case report of a patient in which clinical picture of type 1 diabetes mellitus (T1DM) was accompanied by diabetic ketoacidosis (DKA) and severe hypertriglyceridemia. CASE REPORT A 2.5-year-old boy was admitted to the hospital with ketoacidosis (pH - 7.0, BE - 20mmol/l, HCO3 10mmol/l), glucose level of 850mg%, hyponatremia (Na 100mmol/l) and hyperlipidemia (TG 13493 mg/dl, TC 734 mg/dl). The administered treatment resulted in nearly normal glycemic values and lipid disturbances normalization. This child was diagnosed with a heterozygous mutation of the LPL gene. Currently with an intensive insulin therapy and correct metabolic control of type 1 diabetes mellitus (T1DM), this patient maintains a normal lipid profile. CONCLUSION In patient with T1DM the diagnosis of severe hypertriglyceridemia in the course of ketoacidosis should be based on careful interpretation of laboratory tests results. Moreover genetic tests of the patient and his/her immediate relatives blood samples should be performed.

The assessment of skeletal status in young patients with Turner syndrome by 2 densitometric techniques: Phalangeal quantitative ultrasound and dual energy X-ray absorptiometry

BACKGROUND Studies using dual energy X-ray absorptiometry (DXA) demonstrate a reduction in bone mineral density (BMD) in children and adolescents with Turner syndrome (TS). However, these studies do not take into account changes in bone size, which influence BMD in the case of short-statured patients. Phalangeal quantitative ultrasound (phQUS) measurements have shown an ability to reveal changes due to skeletal growth, aging, and bone and mineral disorders. There is limited data on bone mineral status in girls with TS assessed by 2 different techniques, i.e., DXA and phQUS. OBJECTIVES The aim of this study was to investigate the potential negative impact of TS on bone status and to assess whether densitometric values were related to former fractures. MATERIAL AND METHODS In 43 TS girls aged 5-18 years, we evaluated bone status by 2 different densitometric techniques, DXA and phQUS. RESULTS The mean lumbar spine areal bone mineral density (LS aBMD) Z-score was significantly lower than 0 (the hypothetical mean) compared to the reference population (p < 0.001). The mean LS aBMD height-adjusted Z-score did not differ significantly from 0. The amplitude-dependent speed of sound (Ad-SoS) Z-score was significantly lower than 0 compared with a Polish reference population. There were no significant differences between fractured and fracture-free patients as regards Ad-SoS Z-score and LS aBMD height-adjusted Z-score. CONCLUSIONS Girls with TS have normal bone density adjusted for height, but significantly decreased phQUS values. Neither DXA nor phalangeal Ad-SoS can identify young TS patients with former fractures.

Assessment of inhibin B blood concentration in patients with congenital adrenal hyperplasia

Background. Inhibin B (INH-B) as a marker of Sertoli cells function correlates positively with the number of these cells and negatively with the degreee of the seminiferous tubules damage. In women INH-B may serve as the marker of the ovarian reserve. In patients with congenital adrenal hyperplasia (CAH) fertility is decreased in comparison to the general population. Aim of the study. Assessment of INH-B serum concentrations in patients with CAH and evaluation of relationship between INH-B and LH, FSH, estradiol and testosterone. Material and methods. The study comprised 68 subjects (mean age: 15,0 ± 6,4 years), including 12 men, 27 boys and 13 women, 16 girls with classic CAH.Serum assays of INH-B (ELISA; OBI-DSL) and LH, FSH, estradiol and testosterone (ECLIA; Roche) were performed. Results. Mean serum INH-B concentrations in the examined group were 136,7 ± 23,9 pg/ml and in most subjects were within normal ranges for age and sexual development stage. Only in 3 men decreased serum INHSłowa kluczowe inhibina B, wrodzony przerost nadnerczy Streszczenie Wstęp. Inhibina B (INH-B) jako marker oceniający funkcję komórek Sertoliego wykazuje pozytywną korelację z liczbą komórek Sertoliego i negatywną ze stopniem uszkodzenia kanalików nasiennych. U kobiet INH-B może służyć jako marker rezerwy jajnikowej. U chorych z wrodzonym przerostem nadnerczy (WPN) stwierdza się obniżoną płodność w porównaniu do populacji ogólnej. Dotychczas ukazało się niewiele prac na temat stężenia INH-B we krwi u chorych z WPN. Cel pracy. Ocena stężeń INB-B w surowicy krwi u chorych z WPN oraz analiza zależności pomiędzy stężeniem INH-B a stężeniem LH, FSH, estradiolu i testosteronu u tych chorych. Materiał i metody. Badania dotyczyły 68 osób (średni wiek: 15,0 ± 6,4 lat), w tym 12 mężczyzn i 27 chłopców oraz 13 kobiet i 16 dziewcząt z postacią klasyczną WPN. Wykonano oznaczenia INH-B (ELISA; OBI-DSL) oraz LH, FSH, estradiolu i testosteronu (ECLIA; Roche) w surowicy krwi. Wyniki. Średnie stężenia INH-B w surowicy krwi w badanej grupie chorych wynosiły 136,7 ± 23,9 pg/ml i u większości badanych Assessment of inhibin B blood concentration in patients with congenital adrenal hyperplasia 1Department of Paediatrics in Zabrze, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 2Department of Pediatrics, Hospital in Ruda Śląska 3Department of Medical and Molecular Biology, School of Medicine with the Division of Dentistryin Zabrze, Medical University of Silesia in Katowice 4Department of Pathophysiology in Zabrze, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 5Wroclaw Medical University, Faculty of Postgraduate Medical Training, Department and Clinic of Endocrinology and Diabetology for Children and Adolescents;6Department of Intensive Care and Neonatal Pathology,School of Medicine with the Division of Dentistryin Zabrze, Medical University of Silesia in Katowice 7Department of Paediatrics, Paediatrics Endocrinology and Diabetes in Katowice, School of Medicine in Katowice, Medical University of Silesia in Katowice 1Katedra i Klinika Pediatrii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 2Oddział Pediatrii, Szpital w Rudzie Śląskiej 3Katedra Biologii Medycznej i Molekularnej, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 4Zakład Patofizjologii Katedry Patofizjologii i Endokrynologii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 5Katedra i Klinika Endokrynologii i Diabetologii Wieku Rozwojowego we Wrocławiu, Wydział Lekarski Kształcenia Podyplomowego, Uniwersytet Medyczny we Wrocławiu 6Klinika Intensywnej Terapii i Patologii Noworodka Katedry Pediatrii,Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 7Katedra i Klinika Pediatrii, Endokrynologii i Diabetologii, Wydział Lekarski w Katowicach, SUM w Katowicach Ocena stężenia inhibiny B w surowicy krwi u chorych z wrodzonym przerostem nadnerczy 1Katarzyna Ziora, 2Elżbieta Borawska-Dziadek, 1Joanna Oświęcimska, 3Elżbieta Świętochowska, 3Zofia Ostrowska, 4Dariusz Kajdaniuk, 5Beata Wikiera, 5Jolanta Bieniasz, 5Anna Noczyńska, 6Janusz Bursa, 7Ewa Małecka-Tendera Adres do korespondencji / Correspondence address: Ziora Katarzyna, ul. 3 Maja 13/15, 41-800 Zabrze Original Paper Pediatr. Endocrinol. 2016.15.3.56.9-19.

Anti-müllerian hormone serum level in patients with congenital adrenal hyperplasia

Background. Anti-müllerian hormone (AMH) concentration measurement is used to assess ovarian reserve in women and Sertoli cell function in men.In patients with congenital adrenal hyperplasia (CAH) fertility is reduced. There is a few data on serum AMH concentrations in CAH patients in the literature available. The aim of the study. 1. Assessment ofserum AMH in patients with CAH. 2. Analysis of relationship between AMH and sexual hormones serum concentrations in these patients. Material and methods. The studycomprised 68 CAH patients aged 4-30 years (mean age:15,0 ± 6,4 years), including 12 men, 27 boys and 13 women, 16 girls. Serum AMH was determined by ELISA method (Beckham Countler; USA), and estradiol, testosterone, LH and FSH by ECLIA (ROCHE, Switzerland). Results. Mean 1Katedra i Klinika Pediatrii, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 2Oddział Pediatrii, Szpital w Rudzie Śląskiej 3Katedra Biologii Medycznej i Molekularnej, Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 4Zakład Patofizjologii Katedry Patofizjologii i Endokrynologii,Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 5Katedra i Klinika Endokrynologii i Diabetologii Wieku Rozwojowego we Wrocławiu, Wydział Lekarski Kształcenia Podyplomowego, Uniwersytet Medyczny we Wrocławiu 6Klinika Intensywnej Terapii i Patologii Noworodka Katedry Pediatrii,Wydział Lekarski z Oddziałem Lekarsko-Dentystycznym w Zabrzu, SUM w Katowicach 7Katedra i Klinika Pediatrii, Endokrynologii i Diabetologii, Wydział Lekarski w Katowicach, SUM w Katowicach Anti-müllerian hormone serum level in patients with congenital adrenal hyperplasia 1Department of Paediatrics in Zabrze,School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 2Department of Pediatrics, Hospital in Ruda Śląska 3Department of Medical and Molecular Biology, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 4Department of Pathophysiology in Zabrze, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 5Wroclaw Medical University, Faculty of Postgraduate Medical Training, Department and Clinic of Endocrinology and Diabetology for Children and Adolescents 6Department of Intensive Care and Neonatal Pathology,School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice 7Department of Paediatrics, Paediatrics Endocrinology and Diabetes in Katowice, School of Medicine in Katowice, Medical University of Silesia in Katowice