Styloid Process Elongation or Eagle’s Syndrome: Is There Any Role for Ectopic Calcification?

The styloid process (SP) is a cylindrical, long cartilaginous bone located on the temporal bone. The normal SP length is approximately 20–30 mm. The styloid process elongation (SPE) can be assumed if either the SP or the adjacent stylohyoid ligament ossification shows an overall length in excess of 30 mm. Elongated SP is known as Eagle’s syndrome when it causes clinical symptoms as neck and cervicofacial pain. It is supposed that this symptoms and signs are due to the compression of the SP on some neural and vascular structures. It may also cause stroke due to the compression of carotid arteries. This syndrome is diagnosed by both radiographical and physical examination. Instead of many hypotheses and studies, the exact etiology of elongated SP and the role of ectopic calcification are unknown. Ectopic calcification (EC) might have a role for the elongation of SP. Abnormal calcium (Ca), phosphorus (P) and vitamin D metabolism is very common in patients with end-stage renal disease (ESRD). Therefore, this calcification in nonosseous soft tissue due to abnormal serum Ca and P levels is commonly associated with this disorder. EC due to the abnormality in this metabolism which is related to the duration of dialysis is also very important for this calcification. Therefore, a study in patients with ESRD investigating the prevalence of SP and the correlation between dialysis period and the SP length may help us explaining the role of EC in the elongation of SP. Because, this disease might be a good model for the investigation of the EC in this elongation. However, further studies and large samples are also needed to clarify the etiology of this disorder

Investigation of Vitamin D Levels in Patients with Vitiligo Vulgaris

The aim of the study was to investigate serum 25-hydroxyvitamin D (25(OH) D3) levels in patients with vitiligo vulgaris in terms of causal relation and extension of the disorder.This study is a clinical cross-sectional study carried out in order to determine 25-hydroxyvitamin D levels among 25 patients with vitiligo vulgaris and in 41 controls. Fitzpatrick skin phototypes, history of autoimmune disease, family history of vitiligo, and duration of the disease were also evaluated.The mean levels of vitamin D in patient and the control group were 15.2±5.2 ng/dL and 14.4±6.2 ng/dL respectively (P&gt;0.05). In our study, 48% of the patients had insufficient (&lt;30 ng/mL) and 52% had very low (&lt;15 ng/mL) levels of vitamin D. There was no correlation between age, duration of the disease, and body surface area affected with vitamin D levels. There was no significant difference in vitamin D levels between patients who had family history of vitiligo (5 patients, 20%) and those that did not.Vitamin D levels were found to be insufficient (&lt;30 ng/mL) or very low (&lt;15 ng/mL) in most of the patients with vitiligo vulgaris, but not statistically significantly different as a group when compared to the controls. More studies are needed to differentiate between the effects of low vitamin D levels on pathogenesis of vitiligo vulgaris and lower vitamin D levels as a result of the disease. </p

POU6F2 mutation in humans with pubertal failure alters GnRH transcript expression

Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by the absence of pubertal development and subsequent impaired fertility often due to gonadotropin-releasing hormone (GnRH) deficits. Exome sequencing of two independent cohorts of IHH patients identified 12 rare missense variants in POU6F2 in 15 patients. POU6F2 encodes two distinct isoforms. In the adult mouse, expression of both isoform1 and isoform2 was detected in the brain, pituitary, and gonads. However, only isoform1 was detected in mouse primary GnRH cells and three immortalized GnRH cell lines, two mouse and one human. To date, the function of isoform2 has been verified as a transcription factor, while the function of isoform1 has been unknown. In the present report, bioinformatics and cell assays on a human-derived GnRH cell line reveal a novel function for isoform1, demonstrating it can act as a transcriptional regulator, decreasing GNRH1 expression. In addition, the impact of the two most prevalent POU6F2 variants, identified in five IHH patients, that were located at/or close to the DNA-binding domain was examined. Notably, one of these mutations prevented the repression of GnRH transcripts by isoform1. Normally, GnRH transcription increases as GnRH cells mature as they near migrate into the brain. Augmentation earlier during development can disrupt normal GnRH cell migration, consistent with some POU6F2 variants contributing to the IHH pathogenesis

A patient with Eagle syndrome: Radiological and scintigraphic evaluation

A 42-year-old man who had been having otalgia and facial and neck pain for 6 months presented for a routine dental examination. He had suffered two head traumas, the first 20 years ago and the second 4 years ago. A panoramic radiograph (PR) was taken as a screening film after the clinical examination. Bilateral styloid process elongation (SPE) was detected, and the patient was diagnosed as having Eagle syndrome. The styloid process (SP) length was 78 mm on the right and 74 mm on the left on multislice computed tomography (MSCT). Bone scan of the cranium showed normal uptake of radiotracer in the cranial bones and some little activity was detected as a silhouette in the localization of SPE in planar and SPECT images. To the best of our knowledge, this is the first case investigating SPE by bone scintigraphy in a patient with Eagle syndrome

A detailed investigation of hirsutism in a Turkish population: Idiopathic hyperandrogenemia as a perplexing issue

Hirsutism is a common clinical problem in women and the treatment depends on the cause of hirsutism. The study was designed to determine the various causes of hirsutism and their prevalences in a Turkish population. 168 women with hirsutism attending to Endocrinology Outpatient Clinic of Erciyes University Hospital were investigated in detail. Medical history, physical examination, and basal levels of free testosterone (IT), androstenedione, follicle-stimulating hormone (FSH), luteinizing hormone (LH), dehydroepiandrosterone-sulphate (DHEAS), 17 hydroxyprogesterone (17-OHP), 11-deoxycortisol (11-S), thyroid hormones, thyroid stimulating hormone (TSH), and prolactin were determined. ACTH stimulation test was performed for the diagnosis of non-classic congenital adrenal hyperplasia (NCAH). Pelvic/vaginal and adrenal ultra sonographics were performed for the detection of tumors and polycystic ovarian changes. Polycystic ovary syndrome (PCOS) was diagnosed in 96 (57.1%) patients, idiopathic hirsutism in 27 (16%), NCAH in 12 (7.1%), adrenal carcinoma in 3 (1.8%), and Cushing's disease in 1 (0.6%) patient. Among patients with NCAH, 11 (91.7%) patients had 11-beta hydroxylase (11-beta OH) deficiency, and 1 (8.3%) had 21-hydroxylase deficiency. The etiology of hyperandrogenemia was not clear in 29 (17.4%) patients and these patients were named as idiopathic hyperandrogenemia. The clinical presentation of 11-beta OH deficiency is indistinguishable from that of other hyperandrogenic states and ACTH stimulation test is the only way to diagnose this entity. Although PCOS is the most common cause of hirsutism, it is notable that nearly one fifth of hirsute women have no apparent cause of hyperandrogenernia