Journal of Clinical Research in Pediatric Endocrinology最新文献_第5页

Psychosocial Development, Sexuality and Quality of Life in Congenital Adrenal Hyperplasia 先天性肾上腺增生的心理社会发展、性行为和生活质量。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-11-S

Ahmet Uçar, Eda Mengen, Zehra Aycan

引用次数: 0

Treatment and Prevention of Adrenal Crisis and Family Education 肾上腺危机的治疗、预防与家庭教育。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-12-S

Emine Çamtosun, Özlem Sangün

{"title":"Treatment and Prevention of Adrenal Crisis and Family Education","authors":"Emine Çamtosun, Özlem Sangün","doi":"10.4274/jcrpe.galenos.2024.2024-6-12-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-12-S","url":null,"abstract":"Adrenal crisis is a life threatening complication of adrenal insufficiency (AI). Its treatment is urgent and parenteral hydrocortisone (HC) should be given at 10-15 times physiological doses in this situation. If HC is not available, alternatively prednisolone or methyl prednisolone may be used. In cases where peripheral venous access cannot be achieved quickly, intramuscular (IM) administration should be performed without delay. Fluid deficit, hypoglycemia, hyponatremia and hyperkalemia should be evaluated and corrected. Stressful conditions, such as physical stress, accidents, injuries, surgical interventions and anesthesia increase the need for cortisol and may lead the development of adrenal crisis. In order to prevent adrenal crisis, glucocorticoid dose should be increased according to the magnitude and severity of the stress situation as described in this review. Patients’ and/or their families’ education may improve the management of AI and reduce the frequency of adrenal crisis and/or mortality. They should be trained about conditions leading to adrenal crisis, how to increase the glucocorticoid dose in stress situations, recognizing signs of adrenal crisis and using IM HC if it is needed. All patients should be encouraged to carry a card/information sheet/medical alert bracelet or necklace indicating the diagnosis of AI and need for HC administration. It is useful for patients and parents to have an emergency glucocorticoid injection kit and to receive self-injection training.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"80-92"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns 21-羟化酶缺乏所致先天性肾上腺增生的产前诊断与治疗及新生儿先天性肾上腺增生筛查。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-10-S

Zehra Yavaş Abalı, Erdal Kurnaz, Tülay Güran

{"title":"Antenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency and Congenital Adrenal Hyperplasia Screening in Newborns","authors":"Zehra Yavaş Abalı, Erdal Kurnaz, Tülay Güran","doi":"10.4274/jcrpe.galenos.2024.2024-6-10-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-10-S","url":null,"abstract":"Signs of virilization, such as clitoromegaly, labio-scrotal fusion, and urogenital sinus may be observed in females with 21-hydroxylase deficiency (21-OHD) and other rare virilizing forms of congenital adrenal hyperplasia (CAH). This makes sex determination difficult, and multiple reconstructive surgeries in the postnatal period may be required. As 21-OHD is an autosomal recessive disease, the chance of any child being affected is one in four and so only one in eight will be an affected female. The primary objective of antenatal diagnosis is to identify only the affected fetus in the early gestational weeks before the onset of genital organogenesis and to treat that case. Therefore, studies aimed at antenatal diagnosis and preventing adrenal androgen exposure in the female fetus with CAH have long been of interest. Antenatal steroid treatment is considered experimental and controversial for safety reasons in recent clinical guidelines. If antenatal treatment is to be used, it is recommended that it should be performed in experienced centers that can collect data on a large number of cases which will help to define the benefits and harms of treatment better. In the postnatal period, a severe deficiency of the 21-hydroxylase enzyme leads to life-threatening adrenocortical insufficiency in both sexes and varying degrees of pathology of the external genitalia in females. This condition is also associated with high mortality in the first days of life and an increased risk of incorrect sex assignment. Neonatal screening for 21-OHD CAH effectively detects the severe forms and reduces mortality, and it is instrumental in the correct sex assignment of female cases.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"33-43"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Congenital Adrenal Hyperplasia and Adrenal Insufficiency in Children: An Evidence-based Review with Good Practice Points by Adrenal Working Group of The Turkish Society for Pediatric Endocrinology and Diabetes. 儿童先天性肾上腺增生症和肾上腺功能不全：土耳其儿科内分泌学和糖尿病学会肾上腺工作组基于证据的综述及良好实践要点》（An Evidence-based Review with Good Practice Points by the Turkish Society for Pediatric Endocrinology and Diabetes）。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 DOI: 10.4274/jcrpe.galenos.2024.2025-1-4-S

Zeynep Şıklar

引用次数: 0

Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence 儿童及青少年21-羟化酶缺乏所致先天性肾上腺增生的治疗及随访。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-26-S

Havva Nur Peltek Kendirci, Edip Ünal, İsmail Dündar, Ayşe Derya Buluş, Sevinç Odabaşı Güneş, Zeynep Şıklar

{"title":"Treatment and Follow-up of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Childhood and Adolescence","authors":"Havva Nur Peltek Kendirci, Edip Ünal, İsmail Dündar, Ayşe Derya Buluş, Sevinç Odabaşı Güneş, Zeynep Şıklar","doi":"10.4274/jcrpe.galenos.2024.2024-6-26-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-26-S","url":null,"abstract":"Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. More than 95% of the cases occur as a result of defects in the gene encoding 21-hydroxylase (CYP21A2). 21-hydroxylase deficiency has been divided into classical and non-classical forms. In the treatment of classical CAH, it is necessary to replace both glucocorticoid (GC) and mineralocorticoid hormones to prevent salt wasting crisis and reduce excessive corticotropin. In addition to biochemical measurements to evaluate the adequacy of GC and mineralocorticoid treatment; growth rate, body weight, blood pressure and physical examination should be evaluated regularly. There is insufficient data regarding the use of continuous slow-release or modified-release hydrocortisone (HC) preparations and continuous subcutaneous HC infusion, additional/alternative treatment approaches, and cell-based therapies and gene editing technology in children with CAH. GC therapy is recommended in children with inappropriately early onset and rapidly progressing pubarche or accelerated bone age progression, and in adolescents with non-classical CAH (NCCAH) who have overt virilization. In patients with NCCAH, stress doses of HC is recommended for major surgery, trauma, or childbirth but only if the patient has a suboptimal cortisol response to the adrenocorticotropic hormone test. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for optimize treatment, and follow-up of children with CAH due to 21-hydroxylase deficiency in the light of the most recent evidence.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"12-22"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730096/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency 21-羟化酶缺乏所致先天性肾上腺增生的临床、生化和分子特征。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-6-S

Sevinç Odabaşı Güneş, Havva Nur Peltek Kendirci, Edip Ünal, Ayşe Derya Buluş, İsmail Dündar, Zeynep Şıklar

{"title":"Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency","authors":"Sevinç Odabaşı Güneş, Havva Nur Peltek Kendirci, Edip Ünal, Ayşe Derya Buluş, İsmail Dündar, Zeynep Şıklar","doi":"10.4274/jcrpe.galenos.2024.2024-6-6-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-6-S","url":null,"abstract":"Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease caused by the deficiency of one of the enzymes involved in cortisol synthesis. Between 90% and 99% of cases of CAH are caused by 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Although 21-OHD has been historically divided into classical and non-classical forms, it is now thought to show a continuous phenotype. In the classical form, the external genitalia in females becomes virilized to varying degrees. If the disease is not recognized, salt wasting crises in the classical form may threaten life in neonates. Children experience accelerated somatic growth, increased bone age, and premature pubic hair in the simple virilizing form of classical 21-OHD. Female adolescents may present with severe acne, hirsutism, androgenic alopecia, menstrual irregularity or primary amenorrhea in the non-classical form. Diagnosis of CAH is made by clinical, biochemical and molecular genetic evaluation. In cases of 21-OHD, the diagnosis is based on the 17-hydroxyprogesterone (17-OHP) level being above 1000 ng/dL, measured early in the morning. In cases with borderline 17-OHP levels (200-1000 ng/dL), it is recommended to perform an adrenocorticotropic hormone (ACTH) stimulation test. Genotyping in cases with CAH should be performed if the adrenocortical profile is suspicious or if the ACTH stimulation test cannot be performed completely. After diagnosis, determining the carrier status of the parents and determining which parent the mutation was passed on from will help in interpreting the genetic results and determining the risk of recurrence in subsequent pregnancies.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"3-11"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency 除21-羟化酶缺乏症外的罕见类型先天性肾上腺增生。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-21-S

Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya

{"title":"Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency","authors":"Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya","doi":"10.4274/jcrpe.galenos.2024.2024-6-21-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-21-S","url":null,"abstract":"Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed. 3β-HSD deficiency, with an incidence of less than 1/1,000,000 live births, is characterized by impairment of both adrenal and gonadal steroid biosynthesis very early in life, with inadequate virilization in boys and varying degrees of virilization in girls. It may present with salt wasting crisis or delayed puberty in both genders. While 46,XY disorders of sex development is frequently observed in boys with 17-hydroxylase deficiency, immature pubertal development and primary amenorrhea are observed in girls due to estrogen deficiency throughout adolescence. Patients with LCAH, which develops due to steroidogenic acute regulatory protein deficiency, typically present with salt wasting in the first year of life. It is characterized by complete or near-complete deficiency of adrenal and gonadal steroid hormones and progressive accumulation of cholesterol esters in the adrenal gland.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"23-32"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Treatment and Follow-up of Non-stress Adrenal Insufficiency 非应激性肾上腺功能不全的治疗与随访。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-23-S

Fuat Buğrul, Nurhan Özcan Murat

{"title":"Treatment and Follow-up of Non-stress Adrenal Insufficiency","authors":"Fuat Buğrul, Nurhan Özcan Murat","doi":"10.4274/jcrpe.galenos.2024.2024-6-23-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-23-S","url":null,"abstract":"Adrenal insufficiency (AI) is defined as the inability of the adrenal cortex to produce adequate amounts of glucocorticoids and/or mineralocorticoids. As these hormones have important roles in water-salt balance and energy homeostasis, AI is a serious and potentially life-threatening condition. Glucocorticoid replacement therapy is vital in all cases of AI. In children with primary AI (PAI), it is recommended to start glucocorticoid replacement therapy with three or four doses of hydrocortisone and adjust according to individual need. Long-acting glucocorticoids such as prednisolone and dexamethasone are not recommended in children with AI. Mineralocorticoid and salt replacement therapy is also necessary in PAI with aldosterone deficiency. In childhood, it is recommended that patients are monitored at least every three to four months with clinical evaluation including weight gain, growth rate, blood pressure and general well-being of the patient. To prevent adrenal crisis in patients with PAI, glucocorticoid dose adjustment is recommended to patients and/or their families according to the magnitude and severity of the stress situation. This education should include recognition of conditions leading to adrenal crisis, signs of adrenal crisis and how to respond to an impending adrenal crisis. With long-term use of glucocorticoids, the lowest possible dose should be maintained to control the disease to avoid possible side effects. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for the diagnosis and follow-up of non-stress AI.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"93-101"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Long-term Complications and Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia 先天性肾上腺增生的长期并发症及睾丸肾上腺休息肿瘤。

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2025-01-10 Epub Date: 2024-12-23 DOI: 10.4274/jcrpe.galenos.2024.2024-6-22-S

Aylin Kılınç Uğurlu, Elif Özsu, Zehra Aycan

引用次数: 0

A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene. 新生儿耗盐综合征的罕见病因：一例因SCNN1B基因纯合子变异而被诊断为假性醛固酮减少症的临床处理

IF 1.5 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-12-26 DOI: 10.4274/jcrpe.galenos.2024.2024-10-5

Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Kürşat Çetin, Nurten Özkan Zarif, Kıymet Çelik, Ercan Mıhçı, Özden Altıok Clark, Hale Tuhan, Mesut Parlak

{"title":"A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the SCNN1B Gene.","authors":"Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Kürşat Çetin, Nurten Özkan Zarif, Kıymet Çelik, Ercan Mıhçı, Özden Altıok Clark, Hale Tuhan, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2024.2024-10-5","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-10-5","url":null,"abstract":"Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at 7 days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The patient was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the SCNN1B gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0