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.

A 57 years old woman was diagnosed with welldifferentiated lung neuroendocrine tumor (NET) by laboratory assessment, computed tomography (CT), contrast-enhanced magnetic resonance imaging (MRI) and bronchoscophy with transbroncial biopsy of nodular lung lesion located in the right lower lobe. Staging Ga-68 positron emission tomography-CT (PET-CT) showed two pathological uptake regions in the superior segment of the right lung lower lobe (SUVmax: 80.61) and 6th thoracic vertebral body (SUVmax: 3.70). Contrast-enhanced MRI findings suggested that vertebral lesion may be compatible with atypical hemangioma or osseous metastasis due to T1 isointensity, T2 hyperintensity and contrast-enhancement on the lesion. Therefore, characteristic imaging findings of hemangioma were seen on axial and sagittal or coronal sections of CT, respectively called as ‘polka dot’ and ‘corduroy cloth’. Thus the mild vertebral Ga-68 DOTATATE uptake was accepted as false positive finding. Surgical intervention was decided. She underwent a right lung lobectomy. The last follow-up of the patient was done 2 years after the initial diagnosis. The follow-up Ga-68 DOTATATE PET-CT revealed no pathological increased uptake in the whole-body except the 6th vertebra showing similar uptake (SUVmax: 3.50) with the previous scan without size increase on CT. The patient was asymptomatic with normal serum chromogranin A level.

Niemann-Pick disease (NPD), is a rare autosomal recessive lysosomal storage disorder. Niemann-Pick A and B are caused by homozygous or compound heterozygous mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene on chromosome 11p15. Type B is panethnic, although its frequency is increased in Turkish, Arabic and North African populations. Clinical features vary significantly among patients. It is a rare condition and information about its management an outcome during pregnancy and labor is limited. Both maternal mortality and morbidity due to severe postpartum hemorrhage has been reported. We represent a case of successful pregnancy outcome in patient with NPD type B. Type of mutations in SMPD 1 gene and severity of disease before pregnancy can predict the prognosis of pregnancy.

Paget’s disease is a disorder of aging bone which occurs in the setting of accelarated bone remodelling. In the presented case we discuss the difficulties in the diagnosis of Paget’s disease in a 77 year old patient with coexisting endometrium carcinoma. The patient was initially diagnosed with metastatic bone disease due to endometrium adenocarcinoma when she was admitted to oncology clinic with pelvic pain. Bone scintigraphy with Tc99 and (18) F fluorodeoxyglucose positron emission tomography/CT revealed an increased uptake on the bone lesions which were reported as metastatic bone involvement. Although the (18) F-FDG uptake was much higher than the levels that would generally be anticipated in a case with Paget’s disease, high levels of bone turnover markers indicated further evaluation in the differential diagnosis and the definitive diagnosis of Paget’s disease was established with the pathological evaluation of bone biopsy.

Introduction. Congenital adrenal hyperplasia (CAH) autosomal recessive disorders characterized by impaired adrenal steroid hormone synthesis. The most common form is 21-hydroxylase deficiency (21OHD). Testicular adrenal rest tumors (TARTs) are benign intratesticular masses that occur in male patients with CAH. TARTs are quite common in patients with 21OHD who were diagnosed late. Case report. A 41-year-old male patient with CAH secondary to 21OHD. The patient was referred to our endocrinology department from the andrology clinic for bilateral adrenal masses. Bilateral orchiectomy had been performed due to bilateral testicular masses and azoospermia two years ago. The pathology was reported as Leydig cell tumor. In hormonal assessment, baseline cortisol levels were low, 17-hydroxyprogesterone levels with baseline and after cosyntropin stimulation test were high. As a result of clinic and laboratory assessment, the patient was diagnosed with simple virilising CAH due to 21OHD and adrenal insufficiency. Then, prednisolone replacement was initiated. Bilateral orchiectomy tissue blocks of the patient were reassessed and were considered TART. Magnetic resonance imaging revealed bilateral adrenal masses with 88x55 mm on the right and 41x22 mm on the left. Laparoscopic right adrenalectomy was applied and pathology was reported as myelolipoma. Follow-up of the mass on the left adrenal gland is ongoing. The patient is monitored under prednisolone and testosterone replacement therapy. Early diagnosis of CAH is very important because of the complications it causes. It should be considered especially for bilateral testicular and/ or adrenal masses. Both fertility and adrenal glands can be protected with an early diagnosis and an early glucocorticoid replacement.

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Context/Objective. The standard approach is to perform repeat FNAB (rFNAB) in thyroid nodules with nondiagnostic (ND) / insufficient (UNS) cytology. However, due to the nature of these nodules, recurrent FNABs may also be insufficient. Therefore, by comparing the clinicalradiological- pathological parameters of nodules with a definite diagnosis of excision, we questioned the possibility of patient management without rFNAB. Methods. Clinical-radiological parameters of 275 nodules belonging to 264 patients in the ND/UNS aspiration group with definite pathological diagnosis after surgery were determined. Under the guidance of these parameters, those with and without rFNAB were compared. Results. The incidence of malignancy was found to be significantly higher in nodules without rFNAB compared to nodules with rFNAB (p = 0.036). In addition, the incidence of malignancy in BC-1 nodules without rFNAB was significantly higher than in nodules with rFNAB result also BC-1 (p = 0.009). In all cases, nodule size smaller than 10 mm and border irregularity were found to be statistically significant for malignancy (p <0.020, p <0.002). When looking at the distribution of rFNAB results, a significant correlation was observed with female gender, solid component, hypoechogenicity, border irregularity and halo loss around the nodule in patients with BC-4,5,6 cytology results (respectively, 0.005 / 0.031 / 0.001 / 0.012 / 0.004). Conclusion. rFNAB did not show the expected effect in ND / UNS nodules. We recommend direct surgical excision without rFNAB for nodules with border irregularity, solid structure, halo loss and hypoechogenicity, which should be considered more important in female patients.

Vertebrate nonapeptide neurohormones constitute an evolutionarily conserved family, involved in vital functions, such as hydro-osmotic balance regulation, reproduction and social behaviour. Two human members of this family are known, vasopressin (AVP) and oxytocin (OXT), with their highly homologous genes closely located on Chr 20p13. Presence of vasotocin (AVT) in man has been suggested, but remains controversial, and genetic evidence is lacking. AVT activity could be explained by the presence of a third distinct gene for AVT or an RNA-processing mechanism involving products of AVP and/or OXT genes. To test the first hypothesis, we developed bioinformatics and experimental approaches using genomic DNA and fetal tissues mRNAs. Family-specific primers for AVT and neurophysin were designed based on CODEHOP strategy and used in our experiments. Results of bioinformatics and genomic DNA experiments (family-specific and Alu step-out PCR) suggest there is no evidence for an AVT gene in the genome. RNA-based techniques 3?-RACE and Family-Specific Domain Restriction Fragment RTPCR provided evidence for new transcript species that could code for AVT. Further experiments will be needed to characterize them. We discuss potential mechanisms of AVT mRNA generation based on AVP and OXT mRNAs, by alternative splicing, heterologous transsplicing or RNA-editing. While all methods we developed proved feasible, current results suggest there is no AVT gene in the genome, but specific mRNAs could be present in fetal tissues. Their full characterization may potentially allow identification of vasotocin mRNA and shed light on a subject of fundamental scientific interest.