Introduction Impaired bone microarchitecture is involved in vertebral fracture (VF) development among acromegaly patients. Aim of the study Comparison of DXA-derived bone parameters, areal BMD (aBMD), trabecular bone score (TBS) and 3D-SHAPER parameters in acromegaly patients with healthy controls. Methods This cross-sectional study evaluated acromegaly patients and a control group of healthy subjects. In all subjects, a single measurement of pituitary axis hormone levels, bone turnover markers, aBMD, (total hip (TH) and lumbar spine (LS)), TBS and 3D-SHAPER of the proximal femur region was performed. All subjects underwent DXA assessment of VF using the semiquantitative approach. Results One hundred six patients with acromegaly (mean age 56.6 years, BMI 30.2 kg/m2) and 104 control subjects (mean age 54.06 years, 28.4 BMI kg/m2) were included. After adjustment for weight, LS aBMD, TBS and TH trabecular volumetric BMD (vBMD) remained lower (P = 0.0048, <0.0001 and <0.0001, respectively) while cortical thickness (Cth) at TH and neck remained thicker (P = 0.006) in acromegaly patients compared with controls. The best multivariate model (model 1) discriminating patients with and without acromegaly included TBS, TH trabecular vBMD and TH Cth parameters (all P < 0.05). Twenty-two VFs (13 acromegaly subjects) were recognized. In these subjects after adjustment for age, FN aBMD, TH cortical sBMD and TH cortical vBMD remained significantly associated with the prevalent VF (OR = 2.69 (1.07–6.78), 2.84 (1.24–6.51) and 2.38 (1.11–5.10) for neck aBMD, TH cortical sBMD and TH cortical vBMD respectively)). The AUCs were similar for each parameter in this model. Conclusions Acromegaly patients, regardless of VF presence, have lower trabecular bone quantitative parameters, but those with VFs had decreased cortical density.

Chemokine CX3CL1 (fractalkine) may be an important factor linking thyroid status and bone remodeling, through tetrac, a derivative of thyroxine. This study explores the relationship between serum fractalkine levels and parameters of thyroid status and bone in premenopausal women with Graves' disease (GD) in comparison to healthy controls. This cross-sectional study included three premenopausal female groups: active GD; cured GD, and healthy age-, gender-, and BMI-matched controls. Measurement of serum fractalkine levels (Quantikine ELISA), total amino-terminal peptide of procollagen type 1 (P1NP), CTx, thyroid hormones, BMD and trabecular bone score (TBS) were performed in all study subjects. Sixty women (21, 16, and 23 in active GD, cured GD, and healthy control groups, respectively) were included. Serum fractalkine levels were higher (p<0.05) in active and cured GD subjects compared to healthy controls (mean 0.7±0.14; 0.93±0.15, and 0.48±0.13 ng/ml, respectively). Lumbar spine BMD was lowest in the cured GD group in comparison to active GD and control group subjects (0.926±0.03; 1.016±0.03; 1.051±0.03 g/cm; p<0.05, respectively). TBS was lower (p<0.05) in both GD groups than controls being lowest in those with active GD (1.395±0.02; 1.402±0.02, 1.469±0.02, respectively). Serum fractalkine concentration was positively correlated with fT4, and negatively correlated with TBS values. GD in pre-menopausal females is associated with increased serum fractalkine concentration and decreased TBS. Fractalkine may be a currently unappreciated link between hyperthyroidism and bone; further research into this possibility is needed.

Carpal tunnel syndrome (CTS) is neuropathy that occurs due to compression of the median nerve in the carpal tunnel. Acromegaly is one of the important causes of CTS. The aim of this study was to examine median nerve with ultrasound in acromegalic patients and to assess the relationship with activity, duration of disease and body composition parameters. We prospectively examined the cross-sectional area (CSA) of the median nerve with high-resolution ultrasound in 107 acromegalic patients – control group (70 females and 37 males) and 107 healthy controls (70 females and 37 males) matched for age, gender, and BMI. Body composition parameters were assessed by dual-energy X-ray absorptiometry (DXA). The Student t-tests and Pearson correlation were used for data analysis. The cross sectional area of the median nerve was increased in acromegalic patients compared to controls (11.9±4.8 mm2 vs. 7.7±2.4 mm2, P<0.001). Positive correlation was found between IGF-1 levels and CSA in the acromegalic group (R = 0.400, P<0.001). Relationship between CSA and duration of acromegaly was not confirmed. In acromegalic patients, BMI correlated with the CSA (R=0.294, P=0.002). There was no significant difference in BMI, fat mass between the acromegalic and control group, but lean mass was higher in acromegalic patients compared with controls (54.8±13.3 vs. 51±11.6, P=0.047). Lean mass and LMI (total body lean mass/height) positively correlated with CSA in acromegalic patients (R=0.340, P<0.001; R=0.424, P<0.001). No correlation was observed between fat mass and CSA of median nerve in all groups. We confirmed the enlargement of the median nerve in acromegalic patients. This enlargement is proportional to the degree of IGF-1 levels and is not dependent on the duration of the disease. The enlargement of the median nerve in acromegalic patients also depends on lean body mass and is not dependent on fat body mass.

Introduction Recent studies suggest that cortical bone could also play a role in vertebral fracture (VF) development in acromegaly. Objective Evaluate the occurrence of the VF and their relationship to DXA-derived bone parameters. Patients and methods A single-center two year prospective study of acromegaly patients was conducted. Each subject had L1-4 spine, femoral neck and total hip (TH) aBMD measured using DXA, and TBS measurement performed. 3D Shaper™ was used to assess proximal femur trabecular and cortical volumetric (v)BMD, cortical surface (s)BMD and cortical thickness (Cth). VF assessment was performed using the lateral spine imaging IVA™ mode with a Hologic Horizon® densitometer using semi-quantitative approach. Study outcomes were assessed at two time points –baseline and month 24. Results Seventy acromegaly patients (34 M/36F; average 55.1 years) were studied, including 26 with active disease. In 13 patients, nine of whom with controlled disease, VF was observed. A decrease of TBS, sBMD, neck trabecular vBMD, TH and neck cortical vBMD in VF in comparison to non-VF subjects was observed (p&lt;0.05). Multivariate analysis of fracture prediction showed TH cortical vBMD as best fracture prediction parameter with AUC 0.774. TBS was negatively associated with fasting plasma glucose (FPG) and HBA1c at each time point during the follow-up. Conclusions From the total number of 13 VF subjects, 9 of whom occurred in controlled disease group. The most sensitive and specific predictor of incident VF was TH cortical vBMD, suggesting that cortical bone is involved in fracture development.

SúhrnKombinácia Turnerovho syndrómu (TS) a klasickej formy kongenitálnej adrenálnej hyperplázie (CAH) je celosvetovo vzácna. Výskyt CAH -autosomálne recesívneho ochorenia charakterizovaného deficitom jedného z enzýmov steroidogenézy je 1 : 10 000-16 000. V 90 % sa jedná o deficit 21-hydroxylázy (mutácia génu CYP21A2). Incidencia Turnerovho syndrómu je celosvetovo 1 : 2 500. Fenotypovo sa u žien s Turnerovým syndrómom vyskytuje široké spektrum klinických príznakov. Dominantným príznakom je nízky vzrast a gonadálna dysgenéza vedúca k absencii pubertálneho vývoja a neplodnosti. Virilizácia môže byť prítomná u žien s TS s chromozómom Y 45,X/46,XY. V našej kazuistike prezentujeme 57-ročnú ženu s kombináciou mozaiky TS 45,X/46,XX a deficitu 21-hydroxylázy. Po pôrode bolo pacientke na základe intersexu nesprávne určené mužské pohlavie. Dominovala intrauterínna rastová retardácia, známky virilizácie vonkajšieho genitálu Prader 5, testes neboli hmatné. Ako 6-ročnej sa laparoskopicky potvrdila prítomnosť maternice a ovárií. Následne bola realizovaná klitoroplastika s vaginoplastikou. Genetickými vyšetreniami bol potvrdený karyotyp 45,X/46,XX. Nástup virilizácie v období puberty nezapadal do obrazu TS. Laboratórne testy odhalili zvýšenú plazmatickú hladinu 17-hydroxyprogesterónu, dehydroepiandrosterónu s nízkou hladinou kortizolu a elevovanou hladinou ACTH. Génová analýza potvrdila mutáciu CYP21A2 génu a to IN2G (IVS 2-13 A/C>G), veľkú deléciu/konverziu. Následne bola u pacientky začatá substitúcia glukokortikoidmi. Pre laboratórne verifikovanú eleváciu plazmatického renínu boli neskôr do liečby pridané mineralokortikoidy. Na komplexnej liečbe došlo k postupnému zlepšeniu klinického stavu pacientky. Kľúčové slová: CYP21A2 -deficit 21-hydroxylázy -kongenitálna adrenálna hyperplázia -Turnerov syndróm Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report SummaryCombination of Turner syndrome (TS) and classic congenital adrenal hyperplasia (CAH) is rare. Globally, the incidence of CAH, autosomal recessive disorder caused by enzyme defect of steroidogenic pathway, is very low (1 : 10 000-16 000). 90 % of CAH cases are caused by 21-hydroxylase gene mutation (CYP21A2). Globally, the incidencie of Turner syndrome reaches 1 : 2 500. Phenotypically, females with TS may render wide spectrum of clinical features. Dominant symptoms are lowered terminal height and gonadal dysgenesia, ultimately leading to absence of puberty and infertility. Virilisation may be evident among TS women with chromosome Y 45, X/46, XY. We present a 57 year old woman suffering from both TS 45, X/46, XX and 21-hydroxylase deficiency. Based on the intersex, she was misdiagnosed as a male after the birth. Dominant signs were intrauterine growth retardation and Prader 5 virilisation of the external genitalia. Testes were not palpable. Laparoscopy at the age of 6 showed uterus and ovaries. After this examination, clitoroplasty and vaginoplasty was performed. Karyotyping revealed a 45, X/46, XX pattern. Th...