ACTA ENDOCRINOLOGICA (BUC)

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

Amiodarone-induced thyroid dysfunction is common but the development of hyperthyroidism following treatment for amiodarone-induced hypothyroidism is very unusual. We recently saw an elderly man who developed severe thyrotoxicosis four years after diagnosis of and initiation of treatment for amiodarone-induced hypothyroidism. The thyrotoxicosis was treated first with methimazole and discontinuation of L-thyroxine replacement and then with methimazole and prednisone. After successful treatment and withdrawal of therapy, he subsequently re-developed hypothyroidism and required resumption of L-thyroxine replacement. This case highlights that amiodarone-induced hyperthyroidism can occur in patients who previously became hypothyroid on the drug.

Reninoma (juxtaglomerular cell tumor) is a rare cause of renin-mediated hypertension. We reported a 18 year old woman with history of hypertension for 3 years. Laboratory findings showed severe hypokalemia and markedly increased levels of renin and aldosterone. Kidney ultrasonography, abdominal computed tomography and magnetic resonance imaging revealed a small mass in the middle region of the right kidney. The patient underwent nephron-sparing surgery; immunohistochemical results demonstrated typical features of reninoma. Postoperatively, blood pressure and potassium levels were normal at 1 month follow-up.

Introduction. The aim of this study was to investigate the effects of vitamin D deficiency on insulin resistance in patients with non-diabetic chronic kidney disease. Materials and Method. A total of 104 patients with non-diabetic, stage 2 and 3 chronic kidney disease, who had presented to the outpatient clinic during 2 winters, were included in the study. HOMA-IR rate of > 2.6 was accepted as insulin resistance. Severe 25-OH-vitamin D deficiency was defined as < 10 ng/mL, and 10-30 ng/mL was defined as vitamin D insufficiency. The difference in insulin resistance between the patients determined as having severe vitamin D deficiency and vitamin D insufficiency was investigated. Results. Severe vitamin D deficiency was observed to be higher among women (61.8% vs. 38.2%), whereas insufficiency was more common among men (63.3% vs. 26.7%, p<0.05). Insulin resistance was observed to be higher in the group with severe deficiency (11.5 vs. 7.82, p<0.05). Insulin resistance was observed in 60% and 36.7% of the groups with severe deficiency and insufficiency, respectively (p<0.05). Conclusion. Severe vitamin D deficiency had resulted in insulin resistance at a greater rate compared to vitamin D insufficiency in patients with non-diabetic chronic kidney disease (stage 2-3).

Context. The gastrointestinal tract is one of the most affected systems in hyperthyroidism. Although thyrotoxicosis is thought to be associated with gastrointestinal dysmotility, there are limited studies focused on motility disorders in hyperthyroidism. Objectives. We aimed to investigate the manometric measurements to determine if esophageal motility is affected in Graves’ disease. Materials and Methods. Thirty patients with Graves’ disease (18 female and 12 male) and 30, age and sex matched, healthy controls (22 female and 8 male) were recruited to the study between 2015 and 2016. Esophageal manometry was performed using MMS (Medical Measurement Systems bv. The Netherlands) Solar GI – Air Charged Intelligent Gastrointestinal Conventional Manometry. Results. The mean lower esophageal sphincter pressure (LESP) was 16.9 ± 5.3 mmHg in hyperthyroid patients and 20.1 ± 8.8 mmHg in the control group and there was no significant difference (p>0.05). It was observed that the duration of contraction was 3.9 ± 0.7 s in healthy subjects and, significantly shorter 3.2 ± 0.5 s in hyperthyroid patients (p<0.001). Duration of contraction was negatively correlated with TSH receptor Ab titer in patients (p=0.006, r= -0.48). Also, it was observed that the duration of relaxation was negatively correlated with fT4 levels in the patient group (p<0.05, r= -0.46). Conclusion. In this study, we observed that esophageal motility can be affected via shortened duration of contraction in Graves’ disease. The gastrointestinal symptoms due to possible motility dysfunctions should be considered in the evaluation of hyperthyroid patients.

Introduction. Primary bilateral macronodular adrenal hyperplasia (PBMAH) is one of the uncommon causes of endogenous Cushing’s syndrome (CS). Pheochromocytoma (PCC) is another adrenal tumor which is derived from neural crest arising in the adrenal medulla. Here we are reporting a case with recurrent overt CS due to PBMAH, 2 years after unilateral adrenalectomy, concomitant with recently developed PCC. Case Presentation. A 43-year-old woman was admitted to our clinic with a 30 kg weight gain, proximal muscle weakness, menstrual irregularity, easy bruising and excessive hair growth on face and body.The lab results were compatible with a diagnosis of solely ACTH-independent CS. Screening showed bilateral macronodular lesions and she underwent right adrenalectomy. Postoperatively, she had lost weight and her well-being had improved; 2 years later, she developed CS and paroxysmal hypertension. The left adrenal gland was laparoscopically removed. Histopatologically, the lesion was reported as a typical PCC and macronodularmicronodular hyperplasia of the adrenal tissue surrounding that lesion. Conclusions. Pheochromocytoma with synchronous ACTH-independent CS originating from the same adrenal gland is very rare. To the best of our knowledge,our case is the first one describing the coexistence of overt ACTHindependent CS due to PBMAH and metachronous PCC. The importance of detailed re-evaluation of patients with recurrent ACTH-independent CS is highlighted here.

We report the case of a 6.6 years old boy, born to healthy unrelated parents, from a normal pregnancy, admitted for severe growth retardation. His height was 71 cm\r\n(-9.3 SD), with a weight of 6.6 kg and he presented a triunghiular face, mycrognatia, proeminent nose and hypertelorism resulting in a ?bird headed? profile. He associated clinodactyly of the 5th finger and a slightly longer left leg. Tanner stages were P1 G1. The\r\nbiochemical panel was normal, but he presented mild hypocromic anemia. The thyroid function was normal, and the IGF1 low. The karyotype was 46 XY and the bone age 4.5\r\nyears. The pituitary computed tomography revealed empty sella. Based on the clinical picture, the possible diagnosis of Seckel syndrome was suspected. A short course of treatment with Metandienonum 0.04 mg/kg/day for 3 months was recommended, without success (growth speed of 6 cm/year - -0.14 SD)

Background. Elevated serum transforming growth factor-β (TGF-β) is associated with diabetes, cancers and several other diseases in numerous studies. However, there are a few studies reporting the possible relationship between serum TGF-β and obesity indices in apparently healthy individuals. In the present study we examined the possible relationship between body mass index (BMI), fasting serum glucose, lipid profile and liver enzymes in healthy women. Materials and methods. A total of 84 women (BMI 30.12 ± 5.74 kg/m2) were investigated. Anthropometric variables (weight, height, waist circumference and hip circumference) were measured in participants and BMI and waist to hip ratio (WHR) were calculated. Serum concentrations of TGF-β, fasting serum glucose (FSG), serum lipids and liver enzymes were assayed by commercial Enzyme-linked immunosorbent assay (ELISA) kits. Results. Among anthropometric variables, BMI and WC were potent positive predictors of serum TGF-β in stepwise multiple linear regression model (P<0.05). Serum ALT concentration was also positively correlated with serum TGF-β after adjustment for age and other biochemical variables (P = 0.031). In simple correlation analysis, serum TGF-β was positively associated with fat mass and negatively with fat free mass (P < 0.05). Conclusions. Our study confirms that serum TGF-β concentration is associated with indices of both general (BMI) and central obesity (WC), fat mass and liver enzyme in healthy Iranian women. Further studies are needed to possibly confirm these findings and to explore underlying mechanisms.