scholarly journals Variable phenotype of pseudohypoparathyroidism in children

2017 ◽  
Vol 63 (3) ◽  
pp. 148-161
Author(s):  
Nadezhda V. Makazan ◽  
Elizaveta M. Orlova ◽  
Elena V. Tozliyan ◽  
Maria A. Melikyan ◽  
Maria A. Kareva ◽  
...  
Keyword(s):  
Parathyroid Hormone ◽  
Clinical Features ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Clinical Signs ◽  
Hormonal Resistance ◽  
Variable Phenotype ◽  
Pth Resistance ◽  
Subclinical Hypocalcaemia ◽  
Pth Level

Background. Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders associated with tissue insensitivity to parathyroid hormone. PHP is characterized by genetic heterogeneity and variable phenotype. In addition to the hypocalcemic syndrome and resistance to parathyroid hormone, PHP is also characterized by phenotypic features and resistance to other hormones (TSH, LH, FSH, and GHRH), which are known as Albright Hereditary Osteodystrophy (AHO). Until recently, no analysis of large cohorts of patients with PHP has been performed in Russian literature. Objective — to examine a large cohort of patients with PHP and assess the clinical features of PHP. Material and methods. A group consisting of 32 patients with different variants of course of the disease who had been examined at the Endocrinology Research Center in 2014—2016 was analyzed. Results. Features of AHO phenotype in addition to hormonal resistance were identified in 16 (50%) patients; one of them had one feature (brachydactyly) and 15 patients had two and more features of AHO. Besides insensitivity to PTH, TSH resistance was found in 22 (68.75%) patients and one patient had resistance to PTH, TSH and LH/FSH. Hypothyroidism manifested before hypocalcaemia in 4 patients. Obesity was the first complaint in 8 patients; 5 of them had subclinical hypocalcaemia and the remaining 3 patients had an elevated PTH level with the normal level of calcium at the time of first examination. The most typical clinical signs of hypocalcaemia in 23 (72%) patients were seizures. Thirteen of them were misdiagnosed with epilepsy and had been followed by a neurologist for a period ranging between 2 months and 7 years before hypocalcaemia was revealed. Conclusions. Pseudohypoparathyroidism is a rare genetic disorder associated with resistance to parathyroid hormone, which can have a lot of other clinical features in addition to the symptoms of PTH resistance. Obesity or hypothyroidism can be the earliest manifestation of PHP preceding hypocalcaemia. Evaluation of serum calcium level is important for all pediatric patients with seizures to timely diagnose hypocalcaemia and avoid misdiagnosing.

Pseudo-hypothyroidism

2015 ◽  
Vol 61 (3) ◽  
pp. 47-56
Author(s):  
N V Makazan ◽  
E M Orlova ◽  
M A Kareva
Keyword(s):  
Parathyroid Hormone ◽  
G Protein ◽  
Calcium Metabolism ◽  
Genetic Disorder ◽  
Present Review ◽  
Alpha Subunit ◽  
Gnas Gene ◽  
Clinical Variant ◽  
Hormonal Resistance ◽  
Pth Resistance

Pseudo-hypothyroidism (PHP) is a rare genetic disorder that manifests itself in the form of disturbances of phosphorus and calcium metabolism due to parathyroid hormone (PTH) resistance. The clinical variant of PHP depends not only on PTH resistance: there is a phenotype attributable to multi-hormonal resistance. PTH resistance is associated with the disturbance of activity of the alpha-subunit in G-protein due to a defect in the GNAS gene and epigenetic variations. The mechanism underlying the development of this rare (orphan) condition is highly complicated and remains to be elucidated. The present review reflects the modern views of etiology, pathogenesis, and clinical variability of pseudohypothyroidism.

PARATHYROID HORMONE SECRETION IN DISORDERS OF CALCIUM METABOLISM STUDIED BY MEANS OF EDTA

1974 ◽  
Vol 75 (2) ◽  
pp. 286-296 ◽  
Author(s):  
J. H. Lockefeer ◽  
W. H. L. Hackeng ◽  
J. C. Birkenhäger
Keyword(s):  
Parathyroid Hormone ◽  
Primary Hyperparathyroidism ◽  
Calcium Metabolism ◽  
Hormone Secretion ◽  
Parathyroid Tissue ◽  
Small Mass ◽  
Idiopathic Hypercalciuria ◽  
List Type ◽  
Immunoreactive Parathyroid Hormone ◽  
Pth Level

ABSTRACT In 22 of 28 cases of primary hyperparathyroidism (PHP) the rise in the serum immunoreactive parathyroid hormone (IRPTH or PTH) level observed in response to lowering of the serum calcium by EDTA, exceeded that obtained in 8 control subjects. In 5 of these 22 patients who were studied again after parathyroidectomy the supranormal response was abolished. Fifteen of these 22 hyper-responsive PHP patients had basal IRPTH levels not exceeding the highest level in the controls and that of other groups of patients investigated (idiopathic hypercalciuria, non-parathyroid hypercalcaemia, operated PHP). Fourteen of the 22 hyper-reactive patients with PHP did not show hypocalcaemia during the infusion of EDTA. The extent of the release of PTH elicited by EDTA in cases of PHP does not as yet allow a prediction of the amount of pathological parathyroid tissue present, although all the PHP patients showing a normal release of PTH had a relatively small mass of parathyroid tissue (up to about 1 g) subsequently removed. In 9 cases of nephrolithiasis (8 of whom had idiopathic hypercalciuria) and in 7 cases of non-parathyroid hypercalcaemia, a normal PTH release was found.

Clinical features and approach to treatment in pediatric patients with McCune-Albright syndrome: monocentric experience

2019 ◽  
Author(s):  
Nadezhda Makazan ◽  
Elizaveta Orlova ◽  
Maria Kareva ◽  
Anna Kolodkina ◽  
Natalia Kalinchenko ◽  
...  
Keyword(s):  
Clinical Features ◽  
Pediatric Patients ◽  
Mccune Albright Syndrome ◽  
Albright Syndrome ◽  
Mccune Albright

Rhinosinusitis in the Pediatric Patient with Cystic Fibrosis

2014 ◽  
Vol 10 (3) ◽  
pp. 198-201 ◽  
Author(s):  
Christopher Fundakowski ◽  
Rosemary Ojo ◽  
Ramzi Younis
Keyword(s):  
Cystic Fibrosis ◽  
Autosomal Recessive ◽  
Pediatric Patients ◽  
Surgical Intervention ◽  
Chronic Sinusitis ◽  
Genetic Disorder ◽  
Symptomatic Relief ◽  
Recurrence Rates ◽  
Polyp Recurrence ◽  
Sinonasal Polyposis

Cystic fibrosis (CF) is a common autosomal recessive genetic disorder where a deletion mutation and subsequent downstream alteration in transmembrane regulator proteins results in increased mucus viscosity. CF manifests clinically with chronic multisystem inflammation and recurrent infections. Nearly all children with CF have chronic sinusitis, and a large majority will have concurrent sinonasal polyposis. Chronic sinusitis and sinonasal polyposis in pediatric patients with CF can be managed conservatively initially, though most will fail medical management and require surgical intervention. Unfortunately, symptom resolution is marginal and polyp recurrence rates are high. Currently, no cure exists for CF and the mainstay of treatment is to provide symptomatic relief, and minimize disease morbidity.

scholarly journals Diagnostic Value of Clinical Features to Distinguish Enteric Fever From Other Febrile Illnesses in Bangladesh, Nepal, and Pakistan

2020 ◽  
Vol 71 (Supplement_3) ◽  
pp. S257-S265 ◽  
Author(s):  
Kristen Aiemjoy ◽  
Dipesh Tamrakar ◽  
Shampa Saha ◽  
Shiva R Naga ◽  
Alexander T Yu ◽  
...  
Keyword(s):  
Blood Culture ◽  
Clinical Features ◽  
Diagnostic Performance ◽  
Enteric Fever ◽  
Random Effect ◽  
Clinical Signs ◽  
Febrile Illness ◽  
Diagnostic Value ◽  
Case Definition ◽  
Mixed Effect

Abstract Background Enteric fever, a bacterial infection caused by Salmonella enterica serotypes Typhi and Paratyphi A, frequently presents as a nonlocalizing febrile illness that is difficult to distinguish from other infectious causes of fever. Blood culture is not widely available in endemic settings and, even when available, results can take up to 5 days. We evaluated the diagnostic performance of clinical features, including both reported symptoms and clinical signs, of enteric fever among patients participating in the Surveillance for Enteric Fever in Asia Project (SEAP), a 3-year surveillance study in Bangladesh, Nepal, and Pakistan. Methods Outpatients presenting with ≥3 consecutive days of reported fever and inpatients with clinically suspected enteric fever from all 6 SEAP study hospitals were eligible to participate. We evaluated the diagnostic performance of select clinical features against blood culture results among outpatients using mixed-effect regression models with a random effect for study site hospital. We also compared the clinical features of S. Typhi to S. Paratyphi A among both outpatients and inpatients. Results We enrolled 20 899 outpatients, of whom 2116 (10.1%) had positive blood cultures for S. Typhi and 297 (1.4%) had positive cultures for S. Paratyphi A. The sensitivity of absence of cough was the highest among all evaluated features, at 65.5% (95% confidence interval [CI], 55.0–74.7), followed by measured fever at presentation at 59.0% (95% CI, 51.6–65.9) and being unable to complete normal activities for 3 or more days at 51.0% (95% CI, 23.8–77.6). A combined case definition of 3 or more consecutive days of reported fever and 1 or more of the following (a) either the absence of cough, (b) fever at presentation, or (c) 3 or more consecutive days of being unable to conduct usual activity--yielded a sensitivity of 94.6% (95% CI, 93.4–95.5) and specificity of 13.6% (95% CI, 9.8–17.5). Conclusions Clinical features do not accurately distinguish blood culture–confirmed enteric fever from other febrile syndromes. Rapid, affordable, and accurate diagnostics are urgently needed, particularly in settings with limited or no blood culture capacity.

Clinical features and therapeutic response in adult and pediatric patients with American tegumentary leishmaniasis in Rio de Janeiro

2019 ◽  
Author(s):  
Tatiana C R Senna ◽  
Maria Inês F Pimentel ◽  
Liliane F A Oliveira ◽  
Marcelo R Lyra ◽  
Mauricio N Saheki ◽  
...  
Keyword(s):  
Clinical Features ◽  
Rio De Janeiro ◽  
Pediatric Patients ◽  
Therapeutic Response ◽  
Age Groups ◽  
Healing Time ◽  
The Body ◽  
Reference Centre ◽  
Tegumentary Leishmaniasis ◽  
American Tegumentary Leishmaniasis

Abstract Background American tegumentary leishmaniasis (ATL) is a neglected disease with wide territorial distribution. Knowledge is scarce in children and adolescents. This study aims to compare the clinical features and response to antimony treatment in pediatric and adult patients with cutaneous leishmaniasis. Methods A retrospective cohort study was performed with 659 patients who attended a reference centre in Rio de Janeiro, Brazil, from 2000 to 2015. The pediatric cohort consisted of 131 (20%) patients and the adult cohort consisted of 528 (80%) patients. Results The epidemiological profile, antimony therapeutic response and incidence of adverse events (AE) were different in the pediatric cohort compared with the adult cohort. Mucosal form was less frequent in the pediatric cohort (RR:0.49, p=0.011). Lesions in the head, neck and trunk were more frequent in the pediatric cohort (RR:1.49, p=0.043). The effectiveness of antimony treatment was superior in the pediatric cohort (88.3% vs 76.6%) with a shorter healing time (RR:0.49, p=0.009). Pediatric patients had lower proportions of moderate to severe AE compared with adults (RR:0.45, p=0.027). Clinical AE predominated in the adult cohort (RR:0.40, p=0.000) and laboratory AE in the pediatric cohort (RR:1.50, p=0.023). Conclusions This study adds to the body of knowledge on differences that exist between different age groups in ATL.

scholarly journals 0897 Sleep Disordered Breathing In Pediatric Patients With Turner Syndrome

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A341-A342
Author(s):  
Y A Yu ◽  
B V Vaughn
Keyword(s):  
Sleep Apnea ◽  
Turner Syndrome ◽  
Sleep Disordered Breathing ◽  
Pediatric Patients ◽  
Genetic Disorder ◽  
Case Series ◽  
Growth Failure ◽  
Retrospective Chart Review ◽  
Upper Airway Resistance Syndrome ◽  
Disordered Breathing

Abstract Introduction Turner syndrome (TS) is a common genetic disorder that affects phenotypic females with partial or complete absence of one X chromosome. It typically presents with characteristic facial appearance, neck webbing, lymphedema, linear growth failure, and ovarian insufficiency. TS is also associated with other disorders, though sleep related disorders are not commonly reported. We present a case series of pediatric patients diagnosed with TS and assess their risk for sleep disordered breathing. Methods This study utilized retrospective chart review of the electronic medical record at the University of North Carolina at Chapel Hill from April 2014 to January 2019. Only pediatric patients under the age of 18 years who had previously undergone polysomnography and carrying the diagnosis of Turner syndrome were included in this study. Polysomnography results were reviewed. Results Retrospective chart analysis yielded ten (10) patients who qualified for inclusion. The mean age was 8.3 years (age range 1-15 years). Nine (9) patients were found to have sleep disordered breathing ranging from upper airway resistance syndrome to moderate sleep apnea (AHI range 1.2 to 6.2). Six (6) patients were found to have elevated periodic limb movement indices (PLM index range 5.1 to 30). Parasomnias and hypoventilation were not seen. Conclusion Our case series illustrates that sleep disordered breathing may be more common in TS than previously realized. Eklund et al. found that females with TS had more retrognathic mandibles and maxillas, shorter mandibles, and larger cranial base angles. These findings may indicate elevated risk of sleep apnea. Further studies are needed to define the overall risk of sleep disordered breathing in TS. Support None.

scholarly journals Incidence and Risk Factors of Inferior Rectus Muscle Palsy in Pediatric Orbital Blowout Fractures

2018 ◽  
Vol 11 (1) ◽  
pp. 028-034 ◽  
Author(s):  
Stephanie M. Young ◽  
Yan Tong Koh ◽  
Errol W. Chan ◽  
Shantha Amrith
Keyword(s):  
Risk Factors ◽  
Clinical Features ◽  
Pediatric Patients ◽  
Rectus Muscle ◽  
Orbital Floor ◽  
Case Review ◽  
Inferior Rectus ◽  
Retrospective Case ◽  
Orbital Blowout Fractures ◽  
Inferior Rectus Muscle

The aim of this study was to evaluate the incidence, clinical features, and risk factors of sustaining inferior rectus (IR) palsy in a group of pediatric patients with orbital floor blowout fractures. We performed a retrospective case review of sequential cases of pediatric orbital floor blowout fractures (<18 years old) from 2000 to 2013 in a tertiary ophthalmic center in Singapore. A total of 48 patients were included in our study, of whom 5 had IR palsy (10.4%). Patients with IR palsy had a higher mean age (16.4 ± 1.5 years) compared with patients without IR palsy (12.4 ± 3.3 years), had significantly ( p < 0.05) worse preoperative motility, and had significantly greater proportion developing postoperative hypertropia (100%) compared with patients without IR palsy (4.7%). Our series of pediatric blowout fractures demonstrated IR palsy prevalence and clinical features for IR palsy which may be distinct to the pediatric group.

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