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Adrenal insufficiency is a disease characterized by insufficient secretion of adrenocortical hormones, usually treated with glucocorticoid replacement therapy. The routine drugs have two forms-short-acting and long-acting. The shorter one should be taken 2-3 times a day resulting hormone level of patients fluctuating greatly within a day. Although long-acting drugs reduce the frequency of administration, it is easy to lead to excessive replacement, resulting in adverse effects on metabolism. New alternative treatments for adult patients have emerged, including modified-release hydrocortisone and hydrocortisone subcutaneous infusion pumps. In this review, we briefly introduce these new therapies, emphasizing the pharmacodynamics and pharmacokinetics of the replacement, the effects on metabolism and drug safety, aiming at contributing to the future clinical practice.
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A middle-aged man was presented with poor appetite, polyuria, polydrpsia, and headache. A sellar mass was found, along with total pituitary hypofunction and visual field defect. A biopsy of the lesion via the trans-sphenoidal approach showed inflammatory changes and granuloma formation. However, repeated cerebrospinal fluid and pathogenic examination of the pathological tissue showed no positive indications. The initial diagnosis considered autoimmune hypophysitis, and treatment of glucocorticoids combined with immunosuppressants was administered, which led to a temporary shrinkage of the lesion, but it gradually enlarged subsequently. After multidisciplinary discussion, a high possibility of pituitary tuberculosis infection was decided upon. After standardized anti-tuberculosis treatment was initiated, the lesion reduced noticeably and the patient′s condition improved. Pituitary tuberculosis infection is incredibly rare and extremely easy to misdiagnose. This case was diagnosed and treated in a timely and effective manner through a multidisciplinary approach, highlighting the importance of such an approach in dealing with rare diseases.
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Objective To summarize the clinical characteristics and RNF216 gene mutation of a patient with Gordon Holmes syndrome (GHS), and to improve the understanding of the genetic and clinica characteristics of this disease through literature review. Methods We collected the clinical data of the patient with GHS, extracted the DNA from 2 mL peripheral venous blood of the patient and his parents for whole exome gene detection, and then we analyzed the clinical and genetic characteristics of all previously reported patients with RNF216 gene mutation. Results The young male patient was short in stature at sixyearsold and was diagnosed growth hormone deficiency.He had no secondary sexual characteristics by the age of 15 and was diagnosed hypogonadal hypogonadism.After the age of 22, he gradually developed abnormal gait and had progressive decline in speech, motor, and cognitive functions.Whole exome sequencing revealed a homozygous, nonsense mutation c.1549C>T (p.R517*) in the RNF216 gene.His parents were consanguineous and were heterozygous carriers of the mutations with phenotypic normality.Combined with literature review and this case report results showed that a total of 21 patients of the disease in the world and among them 15 had pathogenic variants of RNF216 gene mutation.7 of the 15 had truncated mutations, 5 had missense mutations, and 1 synonym mutation, 1 splice mutation, and 1 deletion mutation respectively.RNF216 gene mutation can be seen in neurodegenerative diseases with multiple overlapping symptoms of GHS, Huntington-like disease, and 4H syndrome.The main clinical manifestations are hypogonadotropic hypogonadism and early-onset progressive neurological dysfunction in adolescence or early adulthood.The median age of onset of neurological symptoms is 28 years old, featuring cerebellar ataxia, dysarthria, and cognitive impairment, as well as imaging manifestations of extensive white matter lesions and cerebellar atrophy. Conclusions The mutation of RNF216 gene can cause GHS.Genetic testing is helpful to the diagnosis and treatment of rare diseases.
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Objective:To recognize the overall situation of the core competency of medical professional postgraduate, analyze the advantages and disadvantages of the training process, and provide basis for better optimization and revision of training objectives and training plans.Methods:An anonymous online questionnaire was conducted among 264 postgraduates majoring in clinical medicine to recognize the cognition and self-evaluation of core competence, and analyze the differences in scores of different grades and types. SPSS 23.0 was used for independent-samples t test; and one-way analysis of variance to analyze categorical variables. Results:The doctoral degree students' core competency results were higher than those of master degree students, and those of the senior students were higher than junior students ( P<0.05). "System Improvement Ability" [master degree students (2.94±1.07), first-year students (2.82±0.97)], "Patient Management" [(first-year students (2.77±1.22)], "Academic Research" [first-year students (2.90±1.03)], and 4 other indicators were the weakness of students (all less than 3 scores). Conclusion:The students have a good sense of professional identity for doctors. The different depth of the clinical practice education is the possible cause which brings about the differences among students with different degrees. We should focus on strengthening the training for the "shortcomings" in the core competence of students.
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The competency-based medical education has formed a global trend, and puts forward a greater challenge for educational design of resident training. The traditional curriculum cannot meet the goal of competency-based education as the curriculum design is lack of theoretical support. Curriculum design is the core of training content, and serves as a significant contributing factor of training outcome. Based on the six-step approach curriculum design, the theory and practice are integrated to form a curriculum design based on theoretical guidance. Through feedback evaluation, the current curriculum design is continuously improved in order to achieve a higher competency-based training quality. With the 5-year experiences and practice, preliminary reform demonstrates effectiveness. The current study hopes to share the teaching reform experiences of residency training base and provide references for colleagues of medical education.
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Background Previous studies have confirmed that nicotine exposure is an independent risk factor for miscarriage, but it is not clear whether nicotine causes unexplained recurrent spontaneous abortion (URSA) through oxidative stress. Objective To explore potential mediating effect of oxidative stress on the relationship between nicotine exposure and URSA. Methods Using a 1∶1 matched case-control study, 88 patients with URSA visiting Beijing Obstetrics and Gynecology Hospital affiliated to Capital Medical University from April to October in 2018 were selected as the case group, and 88 pregnant women without adverse pregnancy outcomes and seeking induced abortion in the outpatient clinic of the same hospital were selected as the control group. The levels of 8-hydroxy-2'-deoxyguanosine (8-OHdG) and 8-iso-prostaglandin F2α (8-iso-PGF2α) in urine were determined by enzyme-linked immunosorbent assay, and the level of urinary nicotine was determined by gas chromatography-mass spectrometry. Conditional logistic regression was used to analyze the associations of nicotine, 8-OHdG, and 8-iso-PGF2α with the risk of URSA. Multiple linear regression was used to analyze the association of nicotine with 8-OHdG and 8-iso-PGF2α. The potential mediating effect of oxidative stress on URSA after nicotine exposure was explored by dichotomous mediating model. Results The median concentrations (creatinine corrected) of nicotine, 8-OHdG, and 8-iso-PGF2α in urine of the case group were 7.78, 4.84, and 44.10 μg·g−1, respectively, while those of the control group were 6.48, 3.34, and 29.39 μg·g−1, respectively. The concentrations of nicotine, 8-OHdG, and 8-iso-PGF2α in urine of the case group were all higher than those of the control group (P < 0.05). The results of conditional logistic regression model showed that after adjusting selected confounding factors, compared with the Q1 groups of nicotine and 8-iso-PGF2α, the OR (95%CI) values of URSA in the Q4 groups were 4.20 (1.33-13.29) and 6.25 (1.66-23.59), respectively. Compared with the Q1 group of 8-OHdG, the OR (95%CI) values of URSA in the Q1, Q2, and Q3 groups were 5.47 (1.43-20.93), 4.24 (1.28-14.07), and 6.36 (1.82-22.28), respectively. The results of multiple linear regression showed that after adjusting confounding factors, there was a positive correlation between urinary nicotine and 8-OHdG in both the case group and the control group, and the b (95%CI) values were 0.76 (0.67-0.86) and 0.81 (0.67-0.95) respectively; there was a positive correlation between urinary nicotine and 8-iso-PGF2α in both the case group and the control group, and the b (95%CI) values were 0.65 (0.55-0.75) and 0.76 (0.64-0.87), respectively. The results of dichotomous mediating analysis showed that the mediating effect of 8-iso-PGF2α and its 95%CI on the relationship between nicotine exposure and URSA was 1.518 (0.749-2.311). Conclusion Internal nicotine exposure is a risk factor for URSA and is positively correlated with oxidative stress, and it may lead to URSA through lipid peroxidation damage.
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Objective:To explore the value of octreotide suppression test(OST) in predicting the efficacy of somatostatin receptor ligands(SRLs) in the treatment of active acromegaly.Methods:The clinical data of 76 patients with active acromegaly from 2011 to 2020 was retrospectively analyzed. OST was carried out as follows: After an overnight fasting and baseline sampling of growth hormone(GH), 100 μg octreotide was subcutaneously injected, and sampling for GH was obtained every 2 hours for 8 hours. All patients were treated with SRLs for at least 3 months. A good GH response is defined as a post-treatment random GH<1 μg/L or >80% fall compared with the baseline GH. A good insulin-like growth factor Ⅰ(IGF-Ⅰ) response is defined as IGF-Ⅰ<1.3 upper limit of normal(ULN) or >50% reduction compared with the baseline. If both GH and IGF-Ⅰ fulfill the criteria of a good response, it is defined as a good GH and IGF-Ⅰ response.Results:The baseline level of GH during OST was 15.00(6.38, 34.20) μg/L, the median time to reach the nadir GH was(3.65±1.65) hours, and the nadir GH level was 1.47(0.50, 4.19) μg/L. The median GH suppression rate was 89.12%(72.71%, 95.09%). When the cutoff value of GH suppression rate in predicting a good GH response was 89.32%, the area under the curve(AUC) was 0.74, with a sensitivity of 81.80% and specificity of 66.00%. When the cutoff value of GH suppression rate in predicting a good IGF-Ⅰ response was 93.14%, the AUC was 0.64, with a sensitivity of 50.00% and specificity of 75.60%. When the GH suppression rate was 90.71%, the AUC was 0.78, with the sensitivity of 83.30% and specificity of 70.00% in predicting a good GH and IGF-Ⅰ response. Compared with GH/IGF-Ⅰ non-responders, GH/IGF-Ⅰ responders displayed lower nadir GH during OST, higher GH suppression rate and IGF-Ⅰ reduction rate, and lower ratio of IGF-1 to ULN( P<0.05). Conclusion:GH suppression rate during the OST is a valuable predictor to evaluate the efficacy of SRLs in patients with acromegaly, with the highest sensitivity and specificity when the cutoff value is 90.71%.
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Objective:Cushing′s disease(CD) is caused by the pituitary adrenocorticotroph hormone(ACTH) secreting adenomas, leading to increased serum cortisol levels and various abnormal metabolic processes. Untreated CD is linked to high mortality, thus it is critical to elucidate its pathogenesis. This study aims to explore the pathogenesis of pituitary ACTH adenomas using whole-genome sequencing analysis.Methods:Fresh tumor tissues and peripheral blood samples were collected in 9 confirmed cases of pituitary ACTH adenomas who underwent surgery. Whole genome sequencing was then performed, followed by analysis and verification of single nucleotide mutations, copy number variation(CNV) and chromosome structure variations.Results:Somatic USP8 mutations(p.Ser718del, p. Ser718Pro, p. Pro720Arg, p. Pro720Gln) were found in 5 patients, with a rate of 55.6%; CNV of USP8 was detected in 1 patient; TP53(p.Cys135Tyr), NF1(p.Val1049Glufs*11) and KMT2C(c.3323+ 1G>A) mutations were identified in 1 patient harboring wild-type USP8. CNV analysis showed a loss of heterozygosity in multiple chromosomes in a wild-type USP8 patient. Structural variations were found in 2 with unknown significance. No germline gene mutations were detected in this study.Conclusion:Somatic USP8 mutations, increased copy number of USP8, variations of tumor-related genes such as TP53 and extensive somatic CNV all contribute to pathogenesis of CD. Chromosomal structure variations may suggest high-risk pituitary ACTH adenomas, and call for frequent follow-up and aggressive treatment.
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Objective:To report the clinical characteristics, diagnosis, and treatment of 2 cases of X-linked acrogigantism(X-LAG).Methods:The clinical information of two patients were retrospectively reported, and peripheral blood DNA was collected for copy number variations detection.Results:Both patients had onset at age of two, with common clinical characteristics including linear growth acceleration, mild facial coarsening, enlargement of hands and feet, increased appetite, and snoring, etc. The heights Z scores of the two patients before treatment were + 6.86 and + 6.53, respectively. Growth hormone(GH) glucose inhibition test showed that GH nadir values were over 1 ng/mL and insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively. Patient 1 received three cycles of octreotide microspheres therapy followed by surgery, and achieved clinical and biochemical remission. Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic gene G-protein coupled receptor 101(GPR101), was found in germline DNA of two patients through copy number variation detection, leading to the diagnosis of X-LAG.Conclusion:It should be cautious of X-LAG when children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with surgery is effective.
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Autoimmune hypophysitis is a rare disorder characterized by autoimmune-mediated inflammation of the pituitary, among which lymphocytic hypophysitis is the most common type that occurs mainly in young women of reproductive ages. Its common clinical manifestation includes headache, visual dysfunction, hypopituitarism and etc. Typical magnetic resonance imaging shows diffuse homogenous enlargement of the pituitary gland with gadolinium enhancement and stalk thickening. Pituitary biopsy with histopathological examination is the gold standard for the diagnosis of autoimmune hypophysitis, but it should be performed with extra care in that transsphenoidal surgery is invasive and may cause pituitary insufficiency. Closely relating to clinical manifestation of the patients and the radiological features is advised for diagnosis. Good response to glucocorticoid therapy also help confirm the diagnosis. Full course of pharmacological glucocorticoid treatment can effectively control the clinical symptoms, reduce the mass effects, and promote the resumption of pituitary functions. Surgery is usually necessary for xanthomatous and granulomatous hypophysitis. Pathophysiological mechanism, diagnostic biomarkers, and need studying further.
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Objective:To investigate mentor-mentee dual evaluation of the current status of mentor competency of clinical and translational research mentors, and provide the basis for mentor training focused on the mentor competences.Methods:A total of 121 clinical and translational research mentors and 170 mentees from Peking Union Medical College Hospital were enrolled. The Chinese version of the Mentor Competency Assessment (MCA) questionnaire was used to evaluate the mentor competency, including maintaining effective communication, aligning expectations, assessing understanding, fostering independence, addressing diversity, promoting professional development total 6 parts with 26 sub-items. The Likert scale was used to quantitatively evaluate the clinical and translational research mentor competency by mentor-mentee dual evaluations. And the composition and training needs of clinical and translational research mentors were investigated. SPSS 25.0 was used for t-test. Results:Seventy percent (119/170) of mentees considered the mentor guidance was very helpful, and 78.5% (95/121) of the mentors considered it necessary to carry out the mentor training. The mentee evaluation of mentor competency was significantly higher than that of mentor self-evaluation [total score (162.35±23.59) vs. (154.80±19.81), P < 0.01]. And the excellent rate of 26 sub-items by mentees and mentors were 100.0%(170/170) and 46.3%(56/121) respectively. The mentors and mentees shared the agreement of the strengths on trust-based relationship and encouraging mentees, and weaknesses on taking into account the possible prejudices in mentor-mentee relationship. Conclusion:The clinical and translational research mentors have already had good competences, but mentor training is still highly warranted. It's expected that to carry out targeted mentor training and assessment according to the mentor's competences will help to improve the construction of the medical talents training system.
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The aim of this study was to assess the effects of orlistat or metformin treatment on lipid and glucose metabolism, and gonadal function in obese/overweight women with polycystic ovary syndrome (PCOS). A total of 39 patients diagnosed with PCOS were randomly (digital table method) divided into orlistat treatment group (20 cases) and metformin treatment group (19 cases). Compared with those before, treatment with either orlistat or metformin significantly reduced body weight, body mass index (BMI), hip circumferences, and serum insulin levels of the PCOS patients both at the end of 3 months and 6 months ( P<0.05). No significant differences could be viewed between orlistat and metformin treated subjects. Moreover, orlistat treatment significantly lowered the levels of low-density lipoprotein cholesterol, total cholesterol, fasting blood glucose, and homeostasis model assessment-insulin resistance (HOMA-IR) ( P<0.05), while there were no significant changes in above parameters with metformin treatment. The improvement of menstrual cycle was observed after 6-month treatment in both groups ( P<0.05). However, changes in polycystic ovarian morphology by ultrasound were only observed in orlistat treated group. In conclusion, orlistat is comparable with metformin in weight loss and improvement of insulin resistance and menstrual cycle, and is superior to metformin in improvement of lipid metabolism in overweight/obese PCOS patients.
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To compare changes in platelet related parameters in obese patients before and after sleeve gastrectomy (SG), we retrospectively analyzed the clinical data of 31 obese patients who underwent SG in Peking Union Medical College Hospital from December 2012 to September 2020. Results showed that compared with those before surgery, platelet count (PLT) decreased significantly at 2-12 weeks of follow-up ( P=0.009), while platelet distribution width (PDW), mean platelet volume (MPV), and large platelet ratio (P-LCR) increased significantly at the same periods of follow-up after operation ( P<0.001). However, the levels of PDW, MPV, and P-LCR began to decrease at 16-55 weeks when compared with those at 2-12 weeks of follow-up ( P<0.01). PLT was positively correlated with white blood cells and neutrophils at 2-12 weeks of follow-up and positively correlated with high sensitivity C-reactive protein at 16-55 weeks of follow-up after operation ( P<0.05).
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The measurement of serum alkaline phosphatase (ALP) levels has been widely used in the clinical setting. However, isolated elevation of serum ALP levels is also commonly seen and needs to be extensiuely evaluated Herein, we present a case of gastric adenocarcinoma with disseminated carcinomatosis of the bone marrow (DCBM). In this case, isolated elevation of serum ALP levels was the only clinical manifestation with no other notable symptom. Additionally, imaging studies including whole body computed tomography (CT) and positron emission tomography-CT (PET-CT) were all negative, which resulted in the misdiagnosis of Paget′s disease of bone initially. This highlights that malignancies involving bones presenting with isolated elevation of serum ALP levels might be misdiagnosed in asymptomatic individuals.
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Pituitary growth hormone adenoma is a benign tumor in sellar region, which presents clinical manifestations of acromegaly or gigantism due to excessive secretion of growth hormone. With the development of genetic technology, a variety of genetic variations are identified being involved in the pathogenesis of growth hormone adenoma and their clinical phenotypes as well as treatment responses, which promotes precise diagnosis and management of pituitary growth hormone adenomas. Among somatic mutations, activating somatic mutations of GNAS can be found in 40% of growth hormone adenomas. Mosaic mutations of GNAS lead to McCune-Albright syndrome, and the most common pituitary features is excessive secretion of growth hormone. Germline mutations of aryl hydrocarbon receptor interacting protein (AIP) can be found in familial and sporadic growth hormone adenomas. AIP-mutated adenomas usually are early-onset macroadenoma with poor response to somatostatin therapy. Xq26.3 microduplication involving the gene GPR101 causes X-linked acrogigantism. Growth hormone adenoma can present as a sporadic solitary pituitary adenoma, or as a part of syndromic disease such as multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4), Carney syndrome, etc. This article summarized the progress of genetic research on growth hormone adenoma, to increase understanding of solitary and syndromic pituitary growth hormone adenomas, and promote further exploration of mechanism and potential therapy targets of pituitary growth hormone adenomas.
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BACKGROUND@#Perioperative treatment has become an increasingly important aspect of the management of patients with non-small cell lung cancer (NSCLC). Small-scale clinical studies performed in recent years have shown improvements in the major pathological remission rate after neoadjuvant therapy, suggesting that it will soon become an important part of NSCLC treatment. Nevertheless, neoadjuvant immunotherapy may be accompanied by serious adverse reactions that lead to delay or cancelation of surgery, additional illness, and even death, and have therefore attracted much attention. The purpose of the clinical recommendations is to form a diagnosis and treatment plan suitable for the current domestic medical situation for the immune-related adverse event (irAE).@*METHODS@#This recommendation is composed of experts in thoracic surgery, oncologists, thoracic medicine and irAE related departments (gastroenterology, respirology, cardiology, infectious medicine, hematology, endocrinology, rheumatology, neurology, dermatology, emergency section) to jointly complete the formulation. Experts make full reference to the irAE guidelines, large-scale clinical research data published by thoracic surgery, and the clinical experience of domestic doctors and publicly published cases, and repeated discussions in multiple disciplines to form this recommendation for perioperative irAE.@*RESULTS@#This clinical recommendation covers the whole process of prevention, evaluation, examination, treatment and monitoring related to irAE, so as to guide the clinical work comprehensively and effectively.@*CONCLUSIONS@#Perioperative irAE management is an important part of immune perioperative treatment of lung cancer. With the continuous development of immune perioperative treatment, more research is needed in the future to optimize the diagnosis and treatment of perioperative irAE.
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X-linked acrogigantism (X-LAG) syndrome is a newly described early-onset giant disease caused by a duplication of the X chromosome q26.3 and a mutation in the G protein-coupled receptor 101(GPR101) gene. Unlike other causes of gigantism, X-LAG syndrome is characterized by early onset, and has special histopathological manifestations and severe clinical phenotype. Early identification, diagnosis, and clinical management are particularly important and challenging. This article reviews the current research progress of X-LAG syndrome, in order to provide theoretical basis for further research and clinical diagnosis and treatment of the disease.
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Objective:To investigate the clinical features and pathological classification of patients with nonfunctional pituitary adenomas(NFPAs)in single medical center according to 2017 World Health Organization.Methods:The clinical and pathological characteristics of 166 patients with NFPAs diagnosed by neurosurgery in Peking Union Medical College Hospital from April 2019 to January 2020 were analyzed retrospectively.Results:In 166 patients, the ratio of male to female was almost equal(1.05∶1). Their average operation age was(49.9±12.3) years, which was significantly higher than that of functional pituitary tumor patients in the same period. Headache, visual acuity decline, and visual field defect were the most common causes for the first visit. All the maximum diameter of tumors was more than 10 mm, and 15 cases(9.0%)were giant tumors. 18 patients(10.8%)were recurrent cases. According to the results of immunohistochemistry for anterior pituitary hormones and transcriptional factors, the most common pathological type was gonadotroph adenomas(50.6%), followed by corticotroph adenomas(24.7%), plurihormonal pituitary adenomas(11.4%), PIT-1-positive adenomas(6.6%), and null cell adenomas(6.6%). Gonadotroph adenomas were more common in men(male∶female ratio=4.1∶1), while corticotroph adenomas occurred mainly in women(male∶female ratio=1∶12.7). The average age of patients with gonadotroph adenomas was the highest, while those of patients with PIT1-positive adenomas and rare combining IHC plurihormonal pituitary adenoma were significantly lower than that of the former. There were no significant differences in the mean diameters of tumors, the proportion of giant adenomas, and recurrent cases among different pathological types of tumors. However, the mean Ki-67 index of PIT-1-positive adenomas was significantly higher than those of other groups( P=0.001). Conclusion:Although the clinical manifestations of NFPAs were similar, their pathological classifications were different. Gonadotroph adenomas occurs mainly in male patients while corticotroph adenomas is more common in women. The prognosis may be different among various pathological types of NFPAs.
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Objective:To investigate the clinical characteristics of four McCune-Albright syndrome (MAS) patients associated with growth hormone(GH)-prolactin(PRL) pituitary adenoma, and explore more effective clinical treatment and management methods.Methods:The clinical data of four patients with MAS and GH-PRL pituitary adenoma diagnosed by Peking Union Medical College Hospital were retrospectively analyzed, including clinical manifestations, biochemical parameters, radiographic characteristics, as well as treatment and prognosis. Literature review was also conducted to analyze the efficacy of surgical operations and drug intervention.Results:Clinical characteristics: 3 females and 1 male, all of whom had onset before the age of 7 years. The types of fibrous dysplasia of bone were all polyosseous and involved craniofacial region. There were obvious gigantism/acromegaly manifestations in all cases, 3 cases had evident visual impairment and 1 case with optic chiasm compression. There was no spontaneous or triggered lactation in all 4 patients. Laboratory examination: GH and insulin-like growth factor-Ⅰ(IGF-Ⅰ) levels were significantly increased in 4 patients, GH levels were not inhibited by oral glucose tolerance test (OGTT), PRL levels were over 100 ng/ml, ALP levels were significantly increased in 4 patients, while serum calcium and phosphorus levels were remained normal. Imaging features: All pituitary adenomas in 4 patients were macroadenomas, with unilateral cavernous sinus enclosure in cases 2 and 3, and recurrence of macroadenoma with bilateral cavernous sinus enclosure in case 4 after the first operation. Four cases of skull CT showed multiple FD in craniofacial bone and skull base. Treatment and outcome: All 4 patients underwent pituitary adenoma resection and bisphosphonate therapy, and somatostatin analogues, dopamine receptor agonists and other treatments were selected according to the situation. Two patients with early diagnosis and initial treatment achieved partial remission after treatment, while the other two patients did not.Conclusions:Patients with MAS and GH-PRL pituitary adenoma had earlier onset age and were more likely to suffer from optic nerve damage. Early diagnosis and reasonable surgical treatment may help to improve biochemical indicators (GH, IGF-Ⅰ, and PRL, etc.) rapidly, and combined drug therapy (somatostatin analogues and dopamine receptor agonists) can better maintain or close to normal biochemical indicators, and ultimately improve the prognosis of patients.
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Objective@#This article reported the clinical characteristics and gene mutations of two pseudoachondroplasia cases, and made a literature review in order to improve clinicians′ understanding of the disease.@*Methods@#Clinical features of two patients who were short stature accompanied with skeletal deformities were summarized, and they accepted whole exome sequencing. We also reviewed literature to summarize the clinical characteristics and known gene research progress of all reported Chinese pseudoachondroplasia cases.@*Results@#The two patients′ clinical characteristics were short limbdwarfism with skeletal deformity. Genetic results showed that there were two heterozygous mutations in the cartilage oligomeric matrix protein (COMP) gene of the two patients, c. 1417_1419delGAC and c. 1552G>A, respectively. Up to March 2019, a total of 58 cases of pseudoachondroplasia have been reported in China. The median height of these patients is -5.03 SDS. The clinical features include abnormal gait, short limbs, short fingers/toes, scoliosis, bracelet sign, ankle sign and other skeletal deformities. COMP is the pathogenic gene and mutations mainly located in calmodulin-like domains. The hotspot mutation is c. 1417_1419delGAC.@*Conclusions@#Pseudoachondroplasia is a kind of rare genetic disease characterized by short stature and skeletal deformities. The clinical and genetic characteristics of the disease were summarized, which may improve the early diagnosis rate.