scholarly journals Diagnosis, Manifestations, Laboratory Investigations, and Prognosis in Pediatric and Adult Cushing’s Disease in a Large Center in China

2021 ◽  
Vol 12 ◽  
Author(s):  
Xueqing Zheng ◽  
He Wang ◽  
Wentai Zhang ◽  
Shanshan Feng ◽  
Yifan Liu ◽  
...  

PurposeCushing’s disease (CD) is a rare disease that contributes to 70–80% hypercortisolemia, which presents similarities and differences between pediatric and adult patients, and even between male and female patients. However, the comparative study of CD between different age groups and different genders is still insufficient. The aim of the study is to make a systematic comparison to reveal the gender differences in children and adult patients of CD, helping clinicians to provide optimal treatment for different groups of patients.MethodsWe conducted a retrospective research consisting of 30 pediatric and 392 adult CD patients in a single center in Peking Union Medical College Hospital. All 422 patients showed symptoms related to hypercortisolism and received adenoma excision surgery in the department of neurosurgery between 2014 and 2020.ResultsFor the accuracy of diagnosis, the sensitivity of BIPSS at baseline in pediatric patients was lower than in adults (75 vs. 91%, P = 0.054) but increased greatly after desmopressin stimulation (94 vs. 95%). However, the accuracy of lateralization for BIPSS was not preferred for prediction. As for clinical manifestations, growth retardation, weight gain, hirsutism, and acne were more prevalent for children, while for adults, hypertension, osteopenia, glucometabolic disorder, easy bruising, hair loss, and weight loss were more frequently seen. As previously reported, we observed a significant difference between the male prevalence of pediatric and adult patients (50 vs. 17%, P < 0.001), which was possibly caused by the more severe and earlier onset of a series of symptoms. Gender-related comparison showed greater morbidity of nephrolithiasis, hypokalemia, hypertension, easy bruising, osteopenia, and striae for male patients, while irregular menses, hirsutism, and hair loss were more common for female patients. Further analysis showed that the secretory activity of the PA axis was higher for males, presenting as the more remarkable alteration of laboratory parameters and contributing to the more severe clinical manifestations. For patients treated with transsphenoidal pituitary surgery (TSS), the immediate prognosis could be predicted by operation history, invasiveness, Ki-67, and information provided by MRI, including tumor size and Knosp grading. However, we still lack methods to predict long-term prognosis.ConclusionsOur study is the first detailed and systematic comparison between pediatric and adult CD patients. Further exploration of the impact of CD on different genders reveals a more severe and probably an earlier-onset pattern of CD for male patients.

Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 2724-2724 ◽  
Author(s):  
Mathias J. Rummel ◽  
Norbert Niederle ◽  
Georg Maschmeyer ◽  
G.-Andre Banat ◽  
Ulrich von Grünhagen ◽  
...  

Abstract Abstract 2724 Background: The NHL 1 study, a prospective, multicenter, randomized, phase 3 study which compared B-R and CHOP-R as first-line treatment in indolent lymphomas and mantle cell lymphoma (MCL), demonstrated a significant benefit in progression-free survival (PFS) as well as improved tolerability for B-R compared with CHOP-R. Here we present an analysis of the impact of response quality on outcome. Methods: 514 patients (pts) with indolent or MCL were randomized to receive B-R or CHOP-R for a maximum of 6 cycles. Results: The overall response rate in the 514 pts (261 B-R; 253 CHOP-R) was 92.7% and 91.3% in the B-R and CHOP-R arms, respectively (as presented at the last ASCO meeting, J Clin Oncol 30, 2012 (suppl; abstr 3). A complete response (CR) was observed in 39.8% in the B-R arm and in 30% in the CHOP-R arm (p=0.021). The achievement of CR was associated with a significantly prolonged PFS and overall survival (OS) (Table 1). Analysis by treatment arm revealed a trend for superior PFS and a significantly improved OS for patients achieving CR following treatment with B-R. In the CHOP-R arm, patients in CR had a significantly superior PFS compared to those in PR with a trend to superior OS. Regardless of the quality of response, PFS was superior with B-R versus CHOP-R: For patients in CR, the median PFS was not reached with B-R, whereas for CHOP-R it was 53.7 months (p=0.0204). In patients achieving PR, treatment with B-R resulted in a median PFS of 57.2 months, and this was 30.9 months with CHOP-R (p=0.0002). We noted a statistically significant difference in CR rates between male (n=272, median age 63 years) and female (n=242, median age 64 years) patients. The CR rate was 28.6% in male patients and 42.1% in female patients (p=0.0016). Female patients had a longer median PFS (51.4 months) compared to male patients (38.6 months), however, this difference was not statistically significant (p=0.0866). Conclusions: Patients in CR following first-line treatment in our study had a significantly longer PFS and OS compared to those achieving a PR. Therefore, our results strongly suggest an association between quality of response and outcome. Disclosures: No relevant conflicts of interest to declare.


Cancers ◽  
2020 ◽  
Vol 12 (3) ◽  
pp. 669 ◽  
Author(s):  
Francesca Pecori Giraldi ◽  
Maria Francesca Cassarino ◽  
Antonella Sesta ◽  
Mariarosa Terreni ◽  
Giovanni Lasio ◽  
...  

(1) Background. Cushing’s disease presents gender disparities in prevalence and clinical course. Little is known, however, about sexual dimorphism at the level of the corticotrope adenoma itself. The aim of the present study was to evaluate molecular features of ACTH-secreting pituitary adenomas collected from female and male patients with Cushing’s disease. (2) Methods. We analyzed 153 ACTH-secreting adenomas collected from 31 men and 122 women. Adenomas were established in culture and ACTH synthesis and secretion assessed in basal conditions as well as during incubation with CRH or dexamethasone. Concurrently, microarray analysis was performed on formalin-fixed specimens and differences in the expression profiles between specimens from male and female patients identified. (3) Results. ACTH medium concentrations in adenomas obtained from male patients were significantly lower than those observed in adenomas from female patients. This could be observed for baseline as well as modulated secretion. Analysis of corticotrope transcriptomes revealed considerable similarities with few, selected differences in functional annotations. Differentially expressed genes comprised genes with known sexual dimorphism, genes involved in tumour development and genes relevant to pituitary pathophysiology. (4) Conclusions. Our study shows for the first time that human corticotrope adenomas present sexual dimorphism and underlines the need for a gender-dependent analysis of these tumours. Differentially expressed genes may represent the basis for gender-tailored target therapy.


2021 ◽  
pp. 1-8
Author(s):  
András Gellért Barta ◽  
Dóra Becsei ◽  
Erika Kiss ◽  
Csaba Sumánszki ◽  
Erika Simonová ◽  
...  

<b><i>Introduction:</i></b> Patients with phenylketonuria (PKU) must follow a lifelong phenylalanine (Phe)-restricted diet with additional amino acid supplementations, and this may put them at risk for nutritional disturbances. However, the body composition and nutritional status of adult patients with PKU has only been partially explored. The current study aims to assess the body composition of adult patients with PKU using multifrequency bioimpedance analysis (MF-BIA) and to reveal potential correlations between therapy adherence and body composition. Additionally, we compared body composition of patients with healthy controls. <b><i>Methods:</i></b> Fifty adult patients with early-treated PKU (27 female and 23 male) and 40 healthy, age- and gender-matched controls were included in this single-center, cross-sectional study. MF-BIA was performed on all subjects. Additionally, we determined serum nutritional markers for all patients. In the PKU patient group, correlation analyses were performed between body composition parameters and therapy adherence. We compared body composition of patients with PKU and controls using BIA. <b><i>Results:</i></b> The proportion of overweight was 56% among all patients with PKU. Female patients with PKU had significantly higher body fat percentage compared with controls. In parallel with higher fat content, we observed lower muscle mass, protein, and mineral content among female patients with PKU compared to controls. Such findings were not observed in male patients. Female patients with PKU had decreased therapy adherence and had significantly lower prealbumin levels compared with males. There was no significant correlation observed between body composition parameters and therapy adherence over the last 10 years in the PKU patient group. <b><i>Conclusion:</i></b> Although female patients had less optimal therapy adherence over the last 10 years compared with male patients, our results suggest that this does not influence body composition fundamentally. Our results suggest that obesity is an important comorbidity in young adult patients with PKU, especially in females. We advocate that nutritional assessments and weight management should be additional objectives of PKU management to provide optimal care.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sairish Ashraf ◽  
Shayaq Ul Abeer Rasool ◽  
Mudasar Nabi ◽  
Mohd Ashraf Ganie ◽  
Shariq R. Masoodi ◽  
...  

AbstractPolycystic ovary syndrome (PCOS) is the most common reproductive endocrine disorder in pre-menopausal women having complex pathophysiology. Several candidate genes have been shown to have association with PCOS. CYP19 gene encodes a key steroidogenic enzyme involved in conversion of androgens into estrogens. Previous studies have reported contradictory results with regard to association of SNP rs2414096 in CYP19 gene with PCOS and hyperandrogenism in different ethnic populations. Present study was aimed to investigate the impact of SNP rs2414096 polymorphism of CYP19 gene on susceptibility of PCOS and hyperandrogenism in Kashmiri women. Further we also studied the genotypic-phenotypic association for various clinical and biochemical parameters of this polymorphism. Case control study. 394 PCOS cases diagnosed on the basis of Rotterdam criteria and age matched 306 healthy women. We found a significant differences in genotypic frequency (χ2 = 18.91, p < 0.05) as well as allele frequency (OR 0.63, CI 0.51–0.78, χ2 = 17.66, p < 0.05) between PCOS women and controls. The genotype–phenotype correlation analysis showed a significant difference in FG score (p = 0.047) and alopecia (p = 0.045) between the three genotypes. Also, the androgen excess markers like DHEAS (p < 0.001), Androstenedione (p < 0.001), Testosterone (p < 0.001) and FAI (p = 0.005) were significantly elevated in GG genotype and showed a significant difference in additive model in PCOS women. rs2414096 polymorphism of CYP19 gene is associated with the risk of PCOS as well as with clinical and biochemical markers of hyperandrogenism, hence suggesting its role in clinical manifestations of PCOS in Kashmiri women.


Author(s):  
Nesma F. Radwan ◽  
Ahmed M. El Khyat ◽  
Adel E. El Gergawy ◽  
Hesham A. Salem

Background: The effect of endometriomas itself on the ovarian responsiveness that relate to ovarian reserve had been reported with several inconsistent results. In one study evaluated women with unilateral endometriomas, ovaries with disease showed lower response to ovarian stimulation than contralateral healthy ovaries .However, recent study on infertile women with un-operated unilateral small endometriomas did not support difference in ovarian responsiveness. The aim was to evaluate the impact of presence of endometriomas on ovarian reserve as measured by circulating AMH. Methods: This retrospective study was carried out on 80 female patients in childbearing period attending outpatient clinic and/or inpatient department of obstetrics and gynecology at Tanat University Hospital and the study was conducted directly after approval in the period from Apri, 2019 till April 2020. Group (A): Study group: 60 female patients aged between 20 to 30 years old GROUP (B): Control group: 20 age matched female with healthy ovaries. Results: there is no statistical significant difference between groups as regard Menarche (years), Regularity and Amount of menstrual blood flow. There is statistical significant difference between groups as regard fixed tender Right Ventricular Failure. But there are no statistical significant differences between groups as regard nodule in rectovaginal septum, fixed tender adnexal masses, association with adenomyosis and infertility. There is highly statistical significant difference between case and control groups as regard AMH levels. there are highly statistical significant positive correlation between duration of endometriosis and each of presence of pelvic pain, cyst diameter and Visual Analogue Scale. Conclusions:    Women with endometrioma have significantly lower serum AMH levels and seem to experience a more rapid decline in serum AMH levels than age matched counterparts, suggesting a harmful effect of endometrioma per se on ovarian reserve.


2018 ◽  
Vol 7 (1) ◽  
pp. R26-R37 ◽  
Author(s):  
Nidan Qiao

Introduction It is unclear whether the proportions of remission and the recurrence rates differ between endoscopic transsphenoidal surgery (TS) and microscopic TS in Cushing’s disease (CD); thus, we conducted a systematic review and meta-analysis to evaluate studies of endoscopic TS and microscopic TS. Methods We conducted a comprehensive search of PubMed to identify relevant studies. Remission and recurrence were used as outcome measures following surgical treatment of CD. Results A total of 24 cohort studies involving 1670 adult patients were included in the comparison. Among these studies, 702 patients across 9 studies underwent endoscopic TS, and 968 patients across 15 studies underwent microscopic TS. Similar baseline characteristics were observed in both groups. There was no significant difference in remission between the two groups: 79.7% (95% CI: 73.1–85.0%) in the endoscopic group and 76.9% (95% CI: 71.3–81.6%) in the microscopic group (P = 0.485). It appears that patients who underwent endoscopic surgery experience recurrence less often than patients who underwent microscopic surgery, with recurrence proportions of 11.0% and 15.9%, respectively (P = 0.134). However, if follow-up time is taken into account, both groups had a recurrence rate of approximately 4% per person per year (95% CI: 3.1–5.4% and 3.6–5.1%, P = 0.651). Conclusions We found that remission proportion and recurrence rate were the same in patients who underwent endoscopic TS as in patients who underwent microscopic TS. The definition of diagnosis, remission and recurrence should always be considered in the studies assessing therapeutic efficacy in CD.


2009 ◽  
Vol 133 (5) ◽  
pp. 787-790
Author(s):  
Kirtee Raparia ◽  
Soo Kee Min ◽  
Dina R. Mody ◽  
Rose Anton ◽  
Mojgan Amrikachi

Abstract Context.—Fine-needle aspiration (FNA) is recommended as an initial screening tool for the diagnosis of thyroid nodules. Approximately 10% of thyroid FNA diagnoses are “suspicious for neoplasm,” warranting surgical resection. Objectives.—To examine the role of a patient's age, sex, size of nodule, and morphologic features as possible predictors of malignancy in patients with cytologic diagnosis of “suspicious for neoplasm.” Design.—Cytopathology slides and reports of 402 consecutive thyroid FNAs from 2000–2005 interpreted as “suspicious” were reviewed. Of these, 180 cases that had subsequent surgical resection were selected. Results.—Of the 108 cases suspicious for follicular neoplasm on cytologic evaluation, histologic follow-up showed malignancy in 26 (24%). Of the 37 cases suspicious for Hürthle cell neoplasm, 15 (41%) had malignancy. Of the 35 cases suspicious for malignancy, 29 had malignant histologic diagnoses. Among cases with cytologic diagnoses of “suspicious for follicular or Hürthle cell neoplasm,” the rate of malignancy in female patients was 22% as compared to 43% in male patients (P = .02). The rate of malignancy in nodules less than 2 cm was 19% compared to 47% in nodules measuring 2 cm or larger (P &lt; .001). These differences were statistically significant. No statistically significant difference was noted between the age of the patient and the rate of benign versus malignant diagnosis. Conclusions.—Malignant tumors were more frequent in male patients with a cytologic diagnosis of “suspicious for follicular or Hürthle cell neoplasm” than in female patients. Risk of malignancy was higher in nodules measuring 2 cm or larger. Age of the patient was not a predictor of malignancy.


2010 ◽  
Vol 10 (2) ◽  
pp. 94-99 ◽  
Author(s):  
Amra Zalihić ◽  
Vedran Markotić ◽  
Dino Zalihić ◽  
Mirela Mabić

The aim of this work is to investigate the influence of gender on recovery after cerebral stroke.It is believed that functional outcome of cerebral stroke (CS) depends on gender. Female gender is mildly negative prognostic factor in after stroke results. Two hundred and two patients who had first ischemic cerebral stroke were questioned with help of, HADS and WHOQOL-Bref questionnaires, looking for differences in recovery depending on gender. Average patients' age was 72+/-13 (ME+/-IR) years. The youngest patient had 40 years, and the oldest 92 years, and medium range was 52 years. There were 112 males and 90 females. Quality of life was equally graded by both male and female after CS (p=0.208). Male patients had significantly better results in physical (p=0.035) and psychological (p=0.020) domain of life quality. After CS, male patients had better results only in memory dimension (p=0.003). Anxiety was statistically more frequent among female patients (p=0.009). Gender did not influence frequency of metabolic syndrome in patients with CS. Quality of life after CS was better in male patients, and statistically significant difference has been shown in physical, psychological domain and memory dimension. Female patients were more anxious then male after CS.


2020 ◽  
Vol 9 (2) ◽  
pp. 461
Author(s):  
Kwi Suk Kim ◽  
Young Hee Choi ◽  
Aree Moon ◽  
Sang Geon Kim

Adalimumab is used at 40-mg dose to treat systemic inflammatory diseases. Given the impact of adverse drug reactions (ADRs), which particularly result in the discontinuation of adalimumab therapy in female patients, this study examined whether sex affects the frequency and type of ADRs induced by adalimumab. In this study, the prescription records and laboratory data of patients aged ≥19 years who had been admitted to the Seoul National University Hospital (SNUH) and prescribed adalimumab were analyzed using an electronic medical record database. The analysis revealed that female patients more frequently experienced adalimumab-induced ADRs compared with male patients (63.2% vs. 52.2%). The incidence of ADRs was significantly higher in female patients with ankylosing spondylitis or rheumatoid arthritis than in male patients with similar conditions (81.5% vs. 60.7% or 64.4% vs. 50.0%, respectively). The median body weight (BW) was lower in female patients than in male patients (54.0 vs. 66.0 kg). Moreover, the incidence of ADRs in patients with a BW of <54.0 kg (i.e., the median female BW) was higher than for those with a BW of ≥54.0 kg, in both males and females. Our results suggested that the predominance of ADRs induced by adalimumab in females was because of their relatively lower BW. This suggests the importance of BW as a determining factor in sex disparity of ADR occurrences.


Blood ◽  
2012 ◽  
Vol 120 (21) ◽  
pp. 3649-3649
Author(s):  
Julia Meissner ◽  
Sascha Dietrich ◽  
Marita Ziepert ◽  
Evelyn Kuhnt ◽  
Tanja Rixecker ◽  
...  

Abstract Abstract 3649 Background: A growing number of patients with aggressive lymphoma experience long term survival after front-line treatment and survivorship issues have been increasingly addressed in recent years. Within treatment-induced sequelae, gonadal failure represents a major late-effect of chemotherapy. With respect to hematologic malignancies the majority of data on fertility effects pertains to Hodgkin Lymphoma treatment regimens whereas information on gonadal toxicity of non-Hodgkin Lymphoma treatments is limited. While CHOP as the standard treatment for aggressive lymphoma is supposed to be associated with only temporary side-effects on fertility in both sexes, nothing is known about the fertility effect of a moderate intensification of CHOP by adding etoposide in frequently used regimens such as CHOEP or dose-adjusted EPOCH. Methods: Our study assessed fertility aspects in young patients with aggressive lymphoma who enjoy ongoing first remission after treatment in the Mabthera International Trial or the German DSHNHL NHLB1 study between 1995 and 2003. Long term survivors of both prospective studies were contacted and invited to answer a questionnaire. Patients who received radiotherapy to the gonadal area as part of their primary treatment as well as those who received chemotherapy for secondary neoplasia were excluded from the analysis. Data on parenthood obtained in the subgroup of patients who received 6 complete cycles (R)-CHOEP (total cyclophosphamide and etoposide dose 4,500 mg/m2 and 1,800 mg/m2, respectively) is reported here. Results: Altogether 66 (31 female, 35 male) patients agreed to participate in the survey. Median age at treatment was 32.5 years (range: 18 – 40) and at time of data collection 44 years (range: 28 – 55), respectively, with a median follow-up after treatment completion of 11 years (range: 7 – 17). While 31 (46.9%) patients already had children before treatment (18 female – 58.1%, 13 male – 37.1%), 35 (53.0%) expressed a clear desire for children after treatment (14 female – 45.2%, 21 male – 60.0%). Ten of these 35 patients did not try to achieve pregnancy, with lack of partner being the main reason. Of the remaining 25 patients (12 female, 13 male) who tried to achieve pregnancy, 18 (9 female – 75%, 9 male – 69%) were finally successful. Apart from 2 deliberate abortions all pregnancies were uncomplicated and resulted in 25 live births. No major health problems were reported in the children. The interval between completion of treatment and birth of first child after treatment ranged from 21 to 146 months (median 58 months) in female patients and from 25 months to 106 months (median 60.5 months) in male patients. Patients not achieving pregnancy tended to be older then patients who successfully achieved pregnancy (median age 30 versus 25 in female patients and 34.5 versus 28 years in male patients). Not achieving parenthood after treatment was associated with emotional stress in 3 of 3 female patients but only in 1 of 4 male patients. Fourteen patients chose cryopreservation of sperm before treatment but none of them utilized preserved sperm for reproductive purposes. Cryopreservation techniques were not used in female patients. Only one female patient received a GnRH analogue in parallel to chemotherapy and gave birth to two children after treatment. Comparison of the presented patient data with the German general population (The German Socio-Economic Panel, 2011) revealed only non-significant differences in the overall percentage of childless women (16.1% in the study population versus 26.0% in the general population, p=0.15) and men (45.7% versus 33.8%, p=0.07). Total fertility rate in female study patients (1.45) paralleled that in the general population (around 1.4 between 1980 and 2010). Conclusions: Parenthood after treatment with CHOP plus etoposide seems not to be significantly impaired in comparison to the general population. Most patients who had attempted post-treatment parenthood were successful. The small percentage of patients not achieving pregnancy despite a clear desire for parenthood after treatment is in line with previous reports on the fertility effects of CHOP. However, all patients of reproductive age should be offered counselling with regard to the impact of planned therapy on their fertility. Disclosures: No relevant conflicts of interest to declare.


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