ACTA ENDOCRINOLOGICA (BUC)

Context. Rapidly progressive precocious puberty (RPPP) is a rare condition in Turner syndrome (TS), with no consensus on treatment and follow-up. Only 12 cases have been reported so far. Objective. We aimed to evaluate the effects of the GnRH analog (GnRHa) on growth and anti-mullerian hormone (AMH) levels in TS and RPPP. Design. The clinical and laboratory data was recorded at baseline and after treatment. Subjects and methods. An 8.1-year old girl with a karyotype of 45, X/46, XX presented with breast development at Tanner stage-2. Breast development advanced to Tanner stage-3 at the age of 8.7 years. Growth velocity (GV) was 8 cm/year. Bone age was 11 years with a predicted adult height of 152 cm. Luteinizing hormone (LH) was 1.69mIU/mL and estradiol was 33pg/mL, confirming the central puberty. AMH level was 6.33ng/mL. The sizes of ovaries and uterus were compatible with the pubertal stage, with an endometrial thickness of 5 mm. GnRHa was started for RPPP. Results. After three months, GV declined to 0 cm/3 months and AMH level to 50% of the baseline. Growth hormone (GH) treatment was started for insufficient growth. GV improved with GH treatment, as well as a far more decreased AMH level. Conclusion. GV usually declines before puberty in patients with TS, even if the mid-parental height is tall. RPPP should be considered if GV is increased. Excessive suppression of growth may be prevented with GH treatment. GnRHa treatment also plays a role in reducing AMH levels in patients with TS.

Introduction. Vitamin D (VD) deficiency is highly prevalent worldwide. Aim. To assess the prevalence of hypovitaminosis D in HIV-positive Romanian patients compared to controls. Methods. Serum 25OHD concentration was measured in HIV-infected patients and a control sample, matched by age, sex and menopausal status. The 25OHD status was defined as: deficiency < 20 ng/mL (severe deficiency <10 ng/mL), insufficiency 20-30 ng/mL, normal >30 ng/mL. Results. We evaluated 118 HIV-positive patients (72 males, 46 females), aged 36.9±12.2 years. 98.14% of them were on complex antiviral regimens. The B/C hepatitis coinfection rate was 9.3%. The control sample consisted of 119 subjects, (74 males, 45 women). The median and interquartile range for serum 25OHD concentration in patients was 17.6 (9.7, 26.9) ng/mL and 23.7 (18.4, 27.5) ng/mL in controls (p=0.001). Only 15.96% of HIV-positive cases and 12.71% of controls had normal VD status. The percentage of cases with severe VD deficiency was significantly higher in HIV positive cases (23.52%) compared to HIV-negative controls (4.2%, p=0.001). Conclusions. Hypovitaminosis D was identified in 84.04% of HIV-infected patients, but the serum 25OHD concentration was not associated with specific HIV-related factors in our sample. Clinical guidelines regarding VD status determination and supplementation in HIV patients are needed.

Introduction. Wolfram Syndrome (WS) is a rare autosomal recessively inherited disorder characterized by juvenile-onset diabetes mellitus (DM), diabetes insipidus, optic atrophy (OA), hearing loss and neurodegeneration. This report describes three cases with WS. Case report. The first case was diagnosed with DM and OA at the age of 6 and 11 years, respectively. Second patient was the sibling of the first patient, also had DM and was investigated for WS after his brothers’ diagnosis. The third patient was diagnosed with DM at the age of 5 years and developed bilateral sensorineural hearing loss and OA at the ages of 7 and 12 years, respectively. Preliminary diagnoses of all patients were confirmed by Sanger sequencing of the WFS1 gene. Two previously reported and a novel mutation were detected. While our first patient was diagnosed with attention deficit hyperactivity disorder previously described in WS patients, obsessive compulsive disorder observed in case 2, was not previously reported in WS to the best of our knowledge. Puberty delay was detected in our first patient and was diagnosed as constitutional delay of puberty and growth. Conclusion. Early diagnosis of WS can lead to early detection of associated pathologies and to decrease complications, morbidity and mortality.

Hypothyroidism is a frequently diagnosed endocrine disorder that has characteristic\r\nclinical signs and symptoms. The frequency of myopathy in hypothyroidism ranges from 30 to\r\n80%. The major symptoms related are: weakness, muscular cramps and myalgia. The\r\npseudohypertrophic form is called Hoffman's syndrome and is quite rare, reassign diagnosis\r\ndifficulties both to endocrinologists and neurologists. The pathogenesis of this form of\r\nmyopathy is still unclear. We report the case of two patients, daughter and father with\r\npseudohypertrophic myopathy and hypothyroidism by Hashimoto's thyroiditis. The two were\r\npreviously treated for hyperthyroidism: first by antithyroid drugs and secondary by surgery (the\r\ndaughter) and radioiodine (the father). Both developed iatrogenic hypothyroidism that vas\r\ntreated by thyroxin replacement therapy. The muscular symptoms: progressive proximal\r\nweakness, muscle hypertrophy accompanied by stiffness, spontaneous muscular pain, muscular\r\ncramps and fatigue during mild exercise have developed during the year before admittance. In\r\nboth patients Hashimoto's thyroiditis was revealed by the high level of TPO antibodies and the\r\nthyroid appearance in sonography. Hormonal dosages confirmed hypothyroidism. Elevated\r\nvalues of CPK and electromyography established the diagnosis of thyroid myopathy. Muscular\r\nsymptoms were improved but not remitted by the thyroxin replacement therapy in adequate\r\ndoses, but CPK normalized. It is the first time that a familial case of Hoffmann syndrome is\r\ndescribed, suggesting a genetic susceptibility to the development of the syndrome.

Increased frequency of adrenal tumours and adrenal myelolipoma has been reported in patients with 21-hydroxylase deficiency (21-OHD). Adrenal myelolipoma is an uncommon, benign, biochemically non-functioning tumor and occasionally reported in association with endocrine disorders. Diagnosis of myelolipomas is based on imaging with ultrasonography, CT or MRI being effective in more than 90% of cases. We present a 34-year-old man with massive bilateral adrenal masses which was detected on computed tomography and was diagnosed as 21-hydroxylase deficiency (21-OHD) based on biochemical findings. Computerized tomography of the abdomen demonstrated bilaterally very low-density adrenal masses (16x28 mm on the right side and 91x88 and 33x30 mm on the left side) consistent with adrenal myelolipomas. Since myelolipomas are considered as benign tumors, he was not operated. Tumor size did not increase during two year follow-up periods. It is recommended to the physicians to be aware of increased frequency of benign adrenal tumors that occur frequently in patients with 21-OHD. Untreated CAH with prolonged excessive ACTH stimulation might contribute to the growth of adrenal masses. CAH should always be ruled out in incidentally detected adrenal masses to avoid unnecessary surgical procedures.

Craniopharyngioma is part of a spectrum of suprasellar cystic neoplasms, with two distinct clinicopathological entities: most are adamantinomatous tumors occurring more\r\noften in children and young adults, and radiographically are calcified, while papillary form develops more often in adults, lacks calcification, and have a better outcome.\r\nIn this report we describe clinical, CT and MRI features, together with histopathological findings of an early recurrent papillary craniopharyngioma. Reviewing the\r\nCT and MRI findings and microscopic specimens of both the initial and the recurred craniopharyngioma, we identified the rapid relapse of the solid tumoral component and\r\ncorrelate it with low-grade basal cell dysplasia of the epithelial component that evolves from small patchy foci to more extensive areas in length and width. While low-grade basal cell dysplasia is not clearly malignant, once the pathologist sees these cellular changes in a papillary cranyopharyngioma, he must note them in his report as basal cell dysplasia could be the cause of an early tumoral recurrence. Although low-grade basal cell dysplasia in\r\nsquamo-papillary craniopharyngioma is uncommon, when such a diagnosis is established, the radiologist must pay attention to MRI characteristic findings of the solid part (maximum diameters, enhancing aspects, shape, and location) and compare them with those from the previous data.

The study comments unusual associations between thyroid and cutaneous autoimmunity: Graves-Basedow disease (GBD), vitiligo and alopecia areata (AA) starting from two cases. In the first case, a woman with systemic lupus erythematosus (SLE), data were recorded from 38 to 49 years as follows: vitiligo (at 38 ys), alopecia areata (4-6 months afterwards), SLE (after 2 ys) and then GBD (after 8 ys). After 3 years, hyperthyroidism has spontaneously vanished, but vitiligo, AA, leucothrichia, SLE, goiter and ophthalmopathy persisted. In the second case, a man, data were recorded from 26 to 70 years and the disease was associated with psoriasis. The sequence of diseases was: vitiligo (at 26 ys), AA and GBD (after 8 ys), followed by iatrogenic 131I hypothyroidism, and psoriasis (after 33 ys). Vitiligo and AA have spontaneously vanished before GBD began. These multiple immune syndrome associations bring up the question: ?Are these diseases multiple associations or a unique immune disease?? A possible point of view, related to immune network, suggests that these multiple associations represent in fact only one process, therefore they represent not many diseases, but different expressions in time (sequence) and space (organ-lesion) of the disease of the immune network.

Cervical lymph nodes could be a starting sign for a complex diagnosis work-up. Depending on co-morbidities, medical unit and physician’s previous experience, the differential diagnosis includes thyroid malignancy, lymphoma, chronic infectious disorders, etc.

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A 55-year-old female patient was admitted for flushing and abdominal pain in the right upper quadrant. Her past medical history revealed high blood pressure and a recent echocardiography showed thickened appearance of tricuspid valve with coaptation defect and grade II tricuspid regurgitation. Contrast enhanced abdominal CT scan and MRI were subsequently performed and revealed a large macronodular liver mass, as well as other micronodular lesions disseminated in the liver parenchyma. CT guided biopsy from the main liver mass revealed neuroendocrine tumor of unknown origin (probably GI) with Ki-67 of 8%. Surgical exploration was decided. During laparotomy, the primary tumor was found in the proximal ileum and the patient underwent segmental enterectomy. Non-anatomical hepatectomy was also performed to remove the bulk of the tumor burden (more than 90%). Postoperative course was uneventful and the carcinoid syndrome relieved. At present, 15 months postoperatively, the patient is under treatment with somatostatin analogue for its antiproliferative effect, with good clinical, biochemical and tumoral control and stable heart disease. In patients with neuroendocrine liver metastases from unknown primary, surgical exploration could allow detection (and resection) of the primary tumor and surgical debulking of liver metastases to control carcinoid syndrome and carcinoid heart disease.