ObjectiveCongenital hypogonadotropic hypogonadism (CHH) and constitutional delay of growth and puberty (CDGP) represent rare and common forms of GnRH deficiency, respectively. Both CDGP and CHH present with delayed puberty, and the distinction between these two entities during early adolescence is challenging. More than 30 genes have been implicated in CHH, while the genetic basis of CDGP is poorly understood.DesignWe characterized and compared the genetic architectures of CHH and CDGP, to test the hypothesis of a shared genetic basis between these disorders.MethodsExome sequencing data were used to identify rare variants in known genes in CHH (n = 116), CDGP (n = 72) and control cohorts (n = 36 874 ExAC and n = 405 CoLaus).ResultsMutations in at least one CHH gene were found in 51% of CHH probands, which is significantly higher than in CDGP (7%, P = 7.6 × 10−11) or controls (18%, P = 5.5 × 10−12). Similarly, oligogenicity (defined as mutations in more than one gene) was common in CHH patients (15%) relative to CDGP (1.4%, P = 0.002) and controls (2%, P = 6.4 × 10−7).ConclusionsOur data suggest that CDGP and CHH have distinct genetic profiles, and this finding may facilitate the differential diagnosis in patients presenting with delayed puberty.

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FNAB-Tg ≥ 1 ng/mL has a superior diagnostic power, irrespective of TgAb (+), in PTC patients with suspected LN involvement.

In conclusion, our results indicate that serum fetuin A concentrations are increased in women with GDM and decreased after delivery. Therefore, fetuin A might have a role in the development of insulin resistance and the metabolic changes in GDM.

Aims We aimed to evaluate the elastographic features of Achilles tendon with Acoustic Radiation Force Impulse in patients with and without diabetic neuropathy. Methods According to the presence of peripheral neuropathy, 45 patients with type 2 diabetes were divided into 2 subgroups. Those with peripheral neuropathy were defined as group I (22 patients) and those without peripheral neuropathy were defined as group II (23 patients). A total of thirty age-, gender-, and body mass index-matched healthy individuals were selected as controls. All participants underwent both ultrasonographic and Acoustic Radiation Force Impulse elastographic examination in order to evaluate Achilles Tendon thickness and stiffness. Results Achilles tendon thicknesses were similar between groups (p=0.991). Achilles tendon thicknesses of both patient groups were significantly higher than the control group (group I vs control p=0.01; group II vs control p=0.006). Stiffness values of Achilles tendons were similar between the control group and group II (p=0.993). Shear Wave Velocity was significantly lower in group I than group IIand control group (p<0.001). Conclusion Diabetic patients with neuropathy have thicker and softer Achilles tendon while the elasticity of Achilles tendon in diabetic patients without neuropathy is similar to the healthy controls. Softening of the Achilles tendon may be an early sign of diabetic foot and reveal the patients with a risk of diabetic foot.

Hyperemesis may lead to hypercalcemic crisis in patients with hyperparathyroidism, so serum Ca level should be checked in patients with hyperemesis gravidarum especially who detoriate rapidly. Although they share some common pathogenetic mechanisms, there is not enough evidence for attributing preeclampsia to primary hyperparathyroidism.

The mean platelet volume (MPV) is an indicator of the average size and activity of platelets. Elevated MPV values are associated with larger and more active platelets and perceived as a new independent cardiovascular risk factor. The aim of this study was to determine the MPV in women with gestational diabetes mellitus (GDM) and to determine the correlation of MPV with metabolic parameters in GDM. We retrospectively analyzed 30 women with GDM and 38 body mass index-matched women with healthy pregnancies as controls. MPV and platelet counts were recorded in the third trimester and at postpartum 6-12 months for GDM group and in the third trimester for control group. Third-trimester MPV was significantly higher in GDM group compared to control group (8.8 ± 1.0 versus 8.1 ± 0.7 fl, p = 0.002). In women with GDM, there was a significant decrease in MPV in the postpartum period (8.8 ± 1.0 versus 8.1 ± 0.8 fl, p < 0.001). Fasting plasma glucose levels and glucose area under the curve were positively correlated with third trimester MPV (r = 0.346, p = 0.007 and r = 0.346, p = 0.02, respectively). Our results indicate that MPV is increased in GDM. Monitoring MPV, which is widely available in clinical practice, may potentially identify women who will develop gestational diabetes during pregnancy.

Background. Several factors such as stress, depression, infection, and vaccination influenced the menstrual cycle in women during the coronavirus disease 2019 (COVID-19) pandemic. We investigated whether there were changes in the menstrual cycle in women after COVID-19 vaccination or infection and, if so, the nature of the change. Methods. This study was designed as a descriptive, cross-sectional study. A face-to-face survey was conducted among menstruating women aged 18–50 years from May 31 to July 31, 2022. Women were inquired about their first three menstrual cycles that occurred after COVID-19 infection or vaccination. Results. Of 241 women with COVID-19 infection, 86 (35.7%) mentioned that they experienced various changes in their menstrual patterns in the first three cycles after infection. Of 537 participants who received various COVID-19 vaccines, 82 (15.1%) stated that they experienced changes in their menstrual patterns after vaccination. The incidence of postvaccination menstrual change was higher in women who received Pfizer-BioNTech and Sinovac (CoronaVac) vaccines. Only 10.9% of women who reported a change in their menstrual pattern after vaccination or infection consulted a physician. Conclusion. COVID-19 infection and vaccination can affect the menstrual cycle in women. It is important to be aware of the menstrual changes after COVID-19 infection and vaccination and to warn and inform women about this issue.