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.
A specific radioimmunoassay for 4-androstene-3,17-dione (androstenedione) based on rabbit antisera to 6j3-hydrpxy-4-androstene-3,17-dione^6-hemisuccinate-bovine serum albumin conjugate was developed. Cross reaction by testosteröne was eliminated by additipn of experimentally established amounts of testosterone antiserum, which cross reacted by only 0.004 with androstenedione. The method has been used fpr simultaneous determination of androstenedione in both plasma and saliva of normal women under basal conditions and following dynamic tests. The plasma levels in normal women averaged 3.6 ± 0.9 nmol/1 and cprrelated (r -0.93) with those found in saliva (0.353 ± 0.089 nmol/1).
A simple radioimmunoassay (RIA) for thyroxine (T4) in saliva has been described. Fifty euthyroid control subjects, 14 euthyroid pregnant women, 23 thyreotoxic and 10 hypothyroid patients were examined. Serum T3, T4, thyroxine binding globulin (TBG) and TSH were measured simultaneously. The mean level of T4 in saliva in controls was 1.10 +/- 0.07 nmol/l. There was a good correlation between the saliva and serum T4 concentrations (r = 0.74) and between saliva T4 values and the T4/TBG ratio (r = 0.83). The saliva T4 levels, like serum free T4, were not dependent on fluctuations of serum TBG concentrations. In euthyroid pregnant women, saliva T4 levels were within the normal range while the serum T4 and TBG were increased. There was a good agreement of saliva T4 values with the functional state of the thyroid. Thus, the RIA of saliva T4 could replace the laborious determination of serum free T4. It can especially be useful in instances with abnormal values of TBG, as it is in pregnancy, in congenital deficiency of serum TBG or in subjects with hereditary elevated TBG levels.
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...
Autoimmune thyroiditis with hypothyroidism is frequently accompanied by symptoms of psychiatric disorders and atherogenic changes in lipid metabolism. Recent studies suggest that some neuroactive steroids and homocysteine are involved in the pathophysiology of both disorders. Homocysteine metabolism may be affected by some steroids. We were interested if the treatment of hypothyroidism would affect the above factors. We studied plasma concentrations of allopregnanolone, pregnenolone sulfate, dehydroepiandosterone and its sulfate, progesterone, estradiol and homocysteine in 14 patients (12 women, 2 men) during the 3-month treatment with levothyroxine. Steroids and thyroid function were monitored by measuring thyrotropin, free triiodothyronine, free thyroxine and levels of thyroid antimicrosomal antibodies and antibodies to thyroglobulin. We have found that with the restoration of the thyrotropin level, free triiodothyronine, free thyroxine and homocysteine levels decreased, but the levels of steroids were not significantly altered. Steroid concentrations correlated negatively with the level of thyroid antimicrosomal antibodies.
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