No abstract

Pituitary stalk interruption syndrome (PSIS) is an extremely rare cause of growth failure and delayed puberty. It can be diagnosed by magnetic resonance imaging (MRI) of the hypothalamus and pituitary gland, showing an ectopic or absent posterior pituitary, an absent or interrupted pituitary stalk, or small anterior pituitary, in combination with growth hormone or other pituitary hormone deficiencies. The exact etiology of PSIS is unknown. In this article, we describe two cases of PSIS in Syria which are, as far as we know, the first published cases.

Background Type 2 diabetes mellitus is believed to be a polygenic disorder that develops as a result of a complex interaction between multiple genes and environmental factors. KCNJ11 gene encodes a Kir6.2 protein which forms the inner section of the potassium channels in pancreatic beta cells. Several studies found that KCNJ11 polymorphism increases T2DM risk. Our study aimed to investigate the association between rs5219 polymorphism of the KCNJ11 gene and T2DM in Syrian patients. Methods This case-control study involved 75 T2DM patients and 63 healthy controls. The KCNJ11 rs5219 polymorphism was genotyped by Restriction Fragment Length Polymorphism (RFLP). Results The frequency of the risk allele K was similar between the two groups (38.7% vs. 38.1%, P = 0.132). The frequency of the KK genotype was higher among the patients’ group (16% vs. 4.8%), and the frequency of the EK genotype was higher among the control group (45.3% vs. 66.6%); however, the differences were statistically insignificant. The KK genotype was significantly associated with T2DM in the recessive model with an OR of 3.81 (95% CI 1.024–14.17, P = 0.035). Conclusions This study showed that rs5219 polymorphism of the KCNJ11 gene is an important risk factor for type 2 diabetes mellitus in a sample of the Syrian population.

Hirsutism is a common endocrine complaint affecting about 10 percent of women. It may be caused by multiple etiologies including adrenal and ovarian disorders. Usually, it is a result of a benign entity such as PCOs and idiopathic hirsutism. However, sometimes especially when it is severe and rapid in progression an androgen-secreting tumor should be excluded. Sertoli-Leydig cell tumors constitute fewer than 0.5 percent of ovarian tumors and it may be benign or malignant. In this article, we present two cases of hyperandrogenism caused by occult ovarian Leydig cell tumors. one of them was confounded by the presence of coincidental bilateral adrenal nodules that complicated the diagnostic process. Tumor dissection was curative in both cases and the diagnosis was confirmed by pathological and hormonal testing after surgery.