Hepatomegaly and short stature in a 14-year-old with type 1 diabetes mellitus: case report

2020 ◽  
Author(s):  
Miriam T Fox ◽  
Jaclyn Tamaroff ◽  
Andrew G Percy ◽  
Stephanie Baker ◽  
Courtney Altshuler ◽  
...  

Abstract Background Mauriac syndrome is a rare consequence of poorly controlled insulin-dependent diabetes, characterized by hepatomegaly, growth failure, delayed onset of puberty, and cushingoid features. Case reports of patients with Mauriac syndrome are found infrequently in the literature given historic improvements in diabetes management due to readily available insulin therapy. Methods We describe a case of a 14-year-old girl who presented with acute onset abdominal pain, distention, and orthopnea. Results She had a history of poorly controlled insulin-dependent diabetes as well as short stature. Abdominal imaging revealed impressive hepatomegaly. Laboratory testing showed markedly elevated triglycerides and cholesterol. Mauriac syndrome was suspected and diagnosed by liver biopsy, which demonstrated significant glycogenic hepatopathy. Conclusions This case provides an illustrative example of Mauriac syndrome in a child who did not experience delayed onset of puberty and continued to have regular menses unlike what has been previously described. Furthermore, this case highlights the important consideration for significant dyslipidemia in patients with Mauriac syndrome and discusses the challenges of controlling insulin-dependent diabetes in the adolescent population.

Children ◽  
2021 ◽  
Vol 8 (5) ◽  
pp. 414
Author(s):  
Maria Melania Lica ◽  
Annamaria Papai ◽  
Andreea Salcudean ◽  
Maria Crainic ◽  
Cristina Georgeta Covaciu ◽  
...  

Assessing mental health in children and adolescents with insulin-dependent diabetes (IDD) is an issue that is underperformed in clinical practice and outpatient clinics. The evaluation of their thoughts, emotions and behaviors has an important role in understanding the interaction between the individual and the disease, the factors that can influence this interaction, as well as the effective methods of intervention. The aim of this study is to identify psychopathology in adolescents with diabetes and the impact on treatment management. A total of 54 adolescents with IDD and 52 adolescents without diabetes, aged 12–18 years, completed APS–SF (Adolescent Psychopathology Scale–Short Form) for the evaluation of psychopathology and adjustment problems. There were no significant differences between adolescents with diabetes and control group regarding psychopathology. Between adolescents with good treatment adherence (HbA1c < 7.6) and those with low treatment adherence (HbA1c > 7.6), significant differences were found. In addition, results showed higher scores in girls compared with boys with IDD with regard to anxiety (GAD), Major Depression (DEP), Post-Traumatic Stress Disorder (PTSD), Eating Disturbance (EAT), Suicide (SUI) and Interpersonal Problems (IPP). No significant differences were found regarding the duration of the disease. Strategies such as maladaptive coping, passivity, distorted conception of the self and the surrounding world and using the negative problem-solving strategies of non-involvement and abandonment had positive correlation with poor glycemic control (bad management of the disease). The study highlighted the importance of promoting mental health in insulin-dependent diabetes management.


1996 ◽  
Vol 22 (1) ◽  
pp. 39-46 ◽  
Author(s):  
NANCY A. MAILLET ◽  
GAIL D'ERAMO MELKUS ◽  
GERALYN SPOLLETT

The purpose of this focus group intervention was to characterize the health beliefs, self care practices, diabetes education needs, weight-loss issues, and facilitators and barriers to diabetes health care in black women with non-insulin-dependent diabetes. Major themes that emerged from the focus group were motivation to prevent complications, unrealistic weight goals set by providers, multiple barriers to diet and exercise, and a dual role of family as supporter and deterrent to diabetes management, especially related to diet. These findings suggest that culturally sensitive and appropriate patient educational programs must be provided for minority groups such as black women who have higher rates of diabetes-related complications.


2019 ◽  
Vol 32 (1) ◽  
pp. 89-93 ◽  
Author(s):  
Can Ozlu ◽  
Gul Yesiltepe Mutlu ◽  
Sukru Hatun

Abstract Background H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature. Case presentation Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis. Conclusions H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.


2021 ◽  
Vol 8 (4) ◽  
pp. 1340
Author(s):  
Parthasarathi Hota

A case presented here depicting testicular necrosis in a 45 years old male patient with diabetes mellitus. Past history suggestive of diabetes with very irregular medication. Patient presented with gradually increasing right testicular enlargement for three weeks. Ultrasonography showed abscess formation with no vascularity in right testis. Right orchiectomy done. Histopathology report confirmed testicular necrosis. Testicular necrosis is a common complication after torsion which leads to orchiectomy. In those cases, patients present with acute onset pain in the scrotum, usually unilateral. On examination there is acutely tender testis with red and angry looking overlying skin. In diabetic patients, urinary tract infections are common occurrence as well as epididymo-orchitis. Patients present with testicular pain with fever, leucocytosis etc. But testicular necrosis is extremely rare. Long term complications specific to diabetes mellitus include retinopathy, nephropathy and neuropathy. Patients with all forms of diabetes of sufficient duration, including insulin-dependent diabetes mellitus and non-insulin-dependent diabetes mellitus, are vulnerable to these complications, which cause serious morbidity. Testicular necrosis is a very rare complication of diabetes mellitus. An internet search did not reveal any article of testicular necrosis as a complication of diabetes. A case of unilateral testicular necrosis as a complication of diabetes mellitus is presented here for the first time. Probably accelerated microangiopathy along with poor control of blood glucose led to this unique complication.


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