The Etiologic Distribution and Clinical Features of Cases Presenting with the Findings of Puberty to the Pediatric Endocrinology Clinic

Author(s):  
Beray SELVER EKLİOĞLU ◽  
Mehmet Emre ATABEK ◽  
Nesibe AKYÜREK ◽  
Emre SARIKAYA
Author(s):  
Yasemin Denkboy Ongen ◽  
Erdal Eren ◽  
Kadriye Cansu Sahin ◽  
Meltem Buhur Pirimoglu ◽  
Halil Saglam ◽  
...  

Author(s):  
Sezer Acar ◽  
Behzat Özkan

Abstract Objectives Recent studies have demonstrated an increase in the frequency of idiopathic central precocious puberty (CPP) during the severe acute respiratory syndrome coronavirus 2 (COVID-19) pandemic. We compared the demographic, anthropometric, and clinical characteristics of idiopathic CPP patients diagnosed during a one-year period of the COVID-19 pandemic with the characteristics of patients diagnosed during the same period in the previous three-years. Methods Demographic, clinical, anthropometric, and laboratory data of all patients diagnosed in our Pediatric Endocrinology clinic with idiopathic CPP during a one-year period of the COVID-19 pandemic (April 2020–March 2021) and a three-year period before the pandemic (April 2017–March 2020) were evaluated retrospectively. Results A total of 124 patients (124 girls, zero boys) diagnosed with idiopathic CPP were included in this study. Sixty-six patients in the three-year period before the COVID-19 pandemic (April 2017–March 2020) and 58 patients (46.8%) in the one-year period during the COVID-19 pandemic period (April 2020–March 2021) were diagnosed with idiopathic CPP. Conclusions This study’s findings suggest that the number of girls diagnosed with idiopathic CPP during the one-year study period during the pandemic was more than double that of any of the previous three-years.


2021 ◽  
Author(s):  
Belén Fernández ◽  
Ainhoa Sarasua Miranda ◽  
Isabel Lorente Blázquez ◽  
Ignacio Diez López

Childhood obesity is a problem of growing importance globally. It is associated with significant health problems. Knowing how to treat it effectively would improve the quality of life of these children. The aim of this chapter is to study how basal metabolism influences the somatometric evolution of the child and adolescent population with obesity in a pediatric endocrinology clinic. Study childhood obesity in a tertiary hospital by means of a multichannel impedanceometry study. All the patients had a basal metabolism lower than the calculated theoretical ideal. In overall terms, weight reduction is not achieved in this pediatric population. However, it is observed a decrease in fat content in the medium term (1-3 years). Bioelectrical impedanceometry measurement is a simple method in clinical practice to evaluate the energy consumption and the body composition. Knowing the body composition of these children would help to intervene more effectively to help control obesity and its health consequences.


2020 ◽  
Vol 61 (3) ◽  
pp. 231-237
Author(s):  
Susan Samuels ◽  
Emily V. Menand ◽  
Elizabeth A. Mauer ◽  
Sasha Hernandez ◽  
Darya Terekhova ◽  
...  

Author(s):  
Mohamed Ahmed Abdullah ◽  
Umsalama Saeed ◽  
Asjjad Abass ◽  
Karib Lubna ◽  
Arabi Weam ◽  
...  

2020 ◽  
Author(s):  
Ja Hye Kim ◽  
Yena Lee ◽  
Yunha Choi ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  

Abstract Background The prevalence of monogenic diabetes is estimated to be 1–5% of patients with diabetes mellitus (DM). The overlapping clinical features of various forms of diabetes make differential diagnosis challenging. Therefore, this study investigated the etiologic distribution and clinical characteristics of pediatric diabetes, including monogenic diabetes, in a single tertiary center over the last 20 years. Methods This study included 276 consecutive patients with DM diagnosed before 18 years of age from January 2000 to December 2019. Clinical features, biochemical findings, β-cell autoantibodies, and molecular characteristics were reviewed retrospectively. Results Of the 276 patients, 206 patients (74.6%), 49 patients (17.8%), and 21 patients (7.6%) were diagnosed with type 1 DM, type 2 DM, and clinically suspected monogenic diabetes, respectively. Among 21 patients with suspected monogenic diabetes, 8 patients had clinical maturity-onset diabetes of the young (MODY), and the remaining 13 patients had other types of monogenic diabetes. Among them, genetic etiologies were identified in 14 patients (5.1%) from 13 families, which included MODY 5, transient neonatal DM, developmental delay, epilepsy, and neonatal diabetes (DEND) syndrome, Wolfram syndrome, Donohue syndrome, IPEX syndrome, Fanconi-Bickel syndrome, Wolcott-Rallison syndrome, cystic fibrosis-related diabetes, and maternally inherited diabetes and deafness. Conclusions Genetically confirmed monogenic diabetes accounts for 5.1% of patients referred to pediatric endocrinology clinics. The frequency of mutations in the major genes of MODY is low among pediatric patients in Korea. Identification of the genetic cause of DM is critical to provide appropriate therapeutic options and genetic counseling.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ugo N. Chikani ◽  
Ijeoma N. Ohuche ◽  
Ada I. Bisi-Onyemaechi

Abstract Background Becker’s nevus syndrome is a syndrome characterized by the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. The nevus usually consists of a circumscribed, unilateral, irregularly shaped hyperpigmented macule, commonly occurring around the anterior upper trunk, with/without hypertrichosis and/or acneiform lesions. This rare syndrome has not been reported in our locality to the best of our knowledge. Case presentation We report the case of a 15-year-old Igbo female patient who presented to our pediatric endocrinology clinic, University of Nigeria Teaching Hospital, Enugu, with complaints of asymmetry of the breasts and hyperpigmented macules on the side. Based on her symptoms, diagnosis of Becker’s nevus syndrome was made. The diagnosis of Becker’s nevus syndrome is mostly clinical, based on the presence of a Becker’s nevus with ipsilateral breast hypoplasia or hypoplastic defects of the muscle, skin, or skeleton. In our patient, there was a Becker’s nevus with ipsilateral breast hypoplasia. This syndrome, belonging to the class of epidermal nevus syndromes, is very rare, and is usually benign. She was placed on spironolactone tablets 50 mg daily, which have been associated with an improvement in the size of the hypoplastic breast, and her fears were allayed. Conclusion This syndrome has not been reported in our locality to the best of our knowledge and, therefore, has a propensity for misdiagnosis by clinicians because of its rarity. We therefore report this to create awareness among clinicians regarding this condition that is associated with much psychosocial trauma among patients, and that can be easily managed with oral spironolactone.


2019 ◽  
Vol 32 (1) ◽  
pp. 71-74 ◽  
Author(s):  
Danielle N. Moyer ◽  
Kara J. Connelly ◽  
Amy L. Holley

Abstract Background Transgender and gender nonconforming (TGNC) youth are at higher risk for anxiety and depression than their peers. The referral rate for those seeking specialty medical care has rapidly increased in recent years. This paper examines the use of brief screening tools with clear cutoffs to assist physicians in rapidly identifying TGNC youth in acute distress. Methods A retrospective chart review was conducted for patients aged 11–18 years being treated in a pediatric endocrinology clinic for gender dysphoria. Patient Health Questionnaires for depression (PHQ-9) and Generalized Anxiety Disorder 7-item (GAD-7) were collected for patients attending an initial consultation (n=79) or follow-up appointment (n=115). Results Screener data identified high rates of acute distress, including depression (47%), anxiety (61%), and suicidal ideation (30%). Distress was not associated with age or gender identity. More youth endorsed clinically significant anxiety at initial consultation appointments versus follow-up appointments. Conclusions The results support the use of the PHQ-9 and GAD-7 as brief, easy-to-use screening measures that can be administered by physicians to rapidly identify acute distress and inform treatment recommendations among TGNC youth seeking medical intervention.


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