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1.
Journal of the ASEAN Federation of Endocrine Societies ; : 155-159, 2016.
Artigo em Inglês | WPRIM | ID: wpr-632788

RESUMO

@#<p style="text-align: justify;">The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma.<br />We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations.</p>


Assuntos
Humanos , Feminino , Adolescente , Nanismo , Cariótipo , Cariotipagem , Fenótipo , Pseudo-Hipoparatireoidismo , Puberdade , Puberdade Tardia , Síndrome de Turner , Braquidactilia
2.
Journal of the ASEAN Federation of Endocrine Societies ; : 142-146, 2015.
Artigo em Inglês | WPRIM | ID: wpr-998638

RESUMO

Background@#Celiac disease is frequently associated with type 1 diabetes mellitus, but is usually ill-defined and not usually suspected until the disease becomes advanced. @*Objective@#To study the prevalence and clinical profile of celiac disease among patients with type 1 diabetes mellitus in a tertiary care referral centre in north India. @*Methodology@#Two hundred and fifty six patients were screened (149 males and 107 females) during the study period of two years, patients were evaluated for the clinical signs, biochemical investigations and family history of celiac disease in tertiary care health center in western Uttar Pradesh. @*Results@#Twenty four (9.37%) patients were diagnosed to have celiac disease; the mean age at diagnosis of diabetes was 9.34 ± 7.3 years. Only 1/24 patients with celiac disease had been diagnosed before detection of diabetes mellitus. The common manifestations were normocytic normochromic anemia (66.6%) followed by diarrhoea (62.5%), abdominal pain/bloating sensation (58.3%) and short stature (58.3%). Some uncommon manifestations were also observed in small number of patients: rickets (20.8%), recurrent hypoglycemia (16.6%), carpopedal spasm (8.3%), and night blindness (8.3%). @*Conclusion@#Celiac disease was found in about 10% of patients with type 1 diabetes, almost 10-20 times higher than that observed in general pediatric population. Atypical manifestations (rickets, recurrent hypoglycemia, carpopedal spasm and night blindness) were found to be common in patients with type 1 diabetes as compared to the general population. Unexplained anemia, diarrhoea, short stature and rickets should raise suspicion for the possibility of undiagnosed celiac disease in type 1 diabetes mellitus.


Assuntos
Diabetes Mellitus Tipo 1 , Anemia
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