Genetic characteristics and long-term follow-up of 11 patients with congenital hyperinsulinism followed in a single center

2016 ◽  
Vol 29 (10) ◽  
Author(s):  
Katharina Warncke ◽  
Franziska Falco ◽  
Wolfgang Rabl ◽  
Ilse Engelsberger ◽  
Julia Saier ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Medical Therapy ◽  
Congenital Hyperinsulinism ◽  
Early Puberty ◽  
Genetic Characteristics ◽  
Subtotal Pancreatectomy ◽  
Laboratory Results ◽  
Long Term Follow Up

AbstractBackground:Congenital hyperinsulinism (CHI) is a rare disease with an estimated incidence of 1:40,000 live births. Here, we characterize 11 patients treated at Munich Children’s Hospital Schwabing.Methods:We analyzed data on birth, treatment and laboratory results including genetic testing and evaluated the long-term course with a follow-up visit.Results:All patients had severe, diazoxide-(DZX)-resistant hypoglycemia, beginning immediately after birth. Two patients were treated by medical therapy, eight underwent subtotal pancreatectomy and one had a partial resection. Both patients who had medical therapy still suffer from occasional hypoglycemia. Six patients with subtotal pancreatectomy were affected by mild hypoglycemia. Seventy-five percent of patients who had surgical treatment developed diabetes mellitus (DM) at a median age of 10.5 (8–13) years. In 89% of patients with available genetic testing, mutations of theConclusions:The majority of CHI-patients not responding to DZX underwent surgery. After subtotal pancreatectomy, patients typically developed diabetes around early puberty.

scholarly journals Long-term follow-up of 114 patients with congenital hyperinsulinism

2003 ◽  
pp. 43-51 ◽  
Author(s):  
T Meissner ◽  
U Wendel ◽  
P Burgard ◽  
S Schaetzle ◽  
E Mayatepek
Keyword(s):  
Diabetes Mellitus ◽  
Pancreatic Surgery ◽  
Congenital Hyperinsulinism ◽  
Childhood Onset ◽  
Neonatal Onset ◽  
Long Term Follow Up ◽  
High Degree ◽  
Onset Group

BACKGROUND: The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. OBJECTIVE: To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. PATIENTS: The data from 114 patients from different hospitals were obtained by a detailed questionnaire. Patients presented neonatally (65%), during infancy (28%) or during childhood (7%). RESULTS: In 20 of 74 (27%) patients with neonatal onset birth weight was greatly increased (group with standard deviation scores (SDS) >2.0) with a mean SDS of 3.2. Twenty-nine percent of neonatal-onset vs 69% of infancy/childhood-onset patients responded to diazoxide and diet or to a carbohydrate-enriched diet alone. Therefore, we observed a high rate of pancreatic surgery performed in the neonatal-onset group (70%) compared with the infancy/childhood-onset group (28%). Partial (3%), subtotal (37%) or near total (15%) pancreatectomy was performed. After pancreatic surgery there appeared a high risk of persistent hypoglycemia (40%). Immediately post-surgery or with a latency of several Years insulin-dependent diabetes mellitus was observed in operated patients (27%). General outcome was poor with a high degree of psychomotor or mental retardation (44%) or epilepsy (25%). An unfavorable outcome correlated with infancy-onset manifestation (chi(2)=6.1, P=0.01). CONCLUSIONS: The high degree of developmental delay, in particular in infancy-onset patients emphasizes the need for a change in treatment strategies to improve the unfavorable outcome. Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.

scholarly journals Efficacy of Medical Therapy in Treatment of Chronic Rhinosinusitis

2012 ◽  
Vol 3 (1) ◽  
pp. ar.2012.3.0027 ◽  
Author(s):  
Lee C. Young ◽  
Nicholas W. Stow ◽  
Lifeng Zhou ◽  
Richard G. Douglas
Keyword(s):  
Chronic Rhinosinusitis ◽  
Clinical Features ◽  
Medical Therapy ◽  
Oral Prednisone ◽  
Treatment Regimens ◽  
Symptom Scores ◽  
Before And After ◽  
Long Term Follow Up

Uncomplicated chronic rhinosinusitis (CRS) is generally treated with medical therapy initially and surgery is contemplated only after medical therapy has failed. However, there is considerable variation in the medical treatment regimens used and studies defining their efficacy are few. The aim of this study was to determine the proportion of patients treated medically who responded sufficiently well so that surgery was not required. Subgroup analysis to identify clinical features that predicted a favorable response to medical therapy was also performed. Eighty patients referred to the Otorhinolaryngology Clinic at North Shore Hospital were treated with a standardized medical therapy protocol (oral prednisone for 3 weeks, oral antibiotics and ongoing saline lavage and intranasal budesonide spray). Symptom scores were collected before and after medical therapy. Clinical features such as presence of polyps, asthma, and aspirin hypersensitivity were recorded. Failure of medical therapy was defined as the persistence of significant CRS symptoms, and those patients who failed medical therapy were offered surgery. Follow-up data were available for 72 (90%) patients. Of this group, 52.5%, (95% CI, 42.7%, 62.2%) failed to respond adequately to medical therapy and were offered surgery. The remaining patients (37.5%) were successfully treated with medical therapy and did not require surgery at the time of follow-up. The premedical therapy symptom scores were significantly higher than the postmedical therapy symptom scores (p < 0.01). The symptom scores of those patients postmedical therapy who proceeded to have surgery were significantly higher than the group who responded well to maximum medical therapy (MMT) and did not require surgery (p < 0.0001). There were no significant differences in the proportion of patients with asthma, aspirin sensitivity, or polyps between the groups failing or not failing MMT. In approximately one-third of patients with CRS, medical therapy improved symptoms sufficiently so that surgical therapy was avoided. Patients with more severe symptoms tended not to respond as well as those with less severe symptoms. Long-term follow-up is required for the group of responders to determine how many will eventually relapse.

scholarly journals Are Current Normal Values of 11DOC Useful for Diagnosis of Non Classical Congenital Adrenal Hyperplasia Due to 11β- Hydroxylase Deficiency?

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A709-A709
Author(s):  
Galia Barash ◽  
Lior Drach ◽  
Larisa Naugolni ◽  
Tamar Yacoel ◽  
Tzvi Tzvi Bistritzer ◽  
...  
Keyword(s):  
Normal Level ◽  
Clinical Symptoms ◽  
Pediatric Population ◽  
Genetic Diagnosis ◽  
Early Puberty ◽  
Hydroxylase Deficiency ◽  
Significant Difference ◽  
Long Term Follow Up

Abstract Background: A non-classic form of 11β-hydroxylase deficiency (NC 11β-OHD) has been reported to cause mild androgen excess, with a clinical presentation of precocious puberty, menstrual cycle abnormalities, or hirsutism during adolescence. Since genetic diagnosis of NC 11βOHD is yet not routinely available, the current gold standard for biochemical diagnosis is elevated 11 DOC levels after corticotropin stimulation test (ACTHstimT). However, there are no clear hormone level cutoffs. One of the accepted references for basal and stimulated levels for the pediatric population was published in 1991 by Lashansky et al1. Aim: To determine the correlation between 11DOC levels measured during ACTHstimT, clinical symptoms attributed to NC11βOHD and androgen levels at presentation, and long-term follow-up among children and adolescents with hyperandrogenism. Methods: a retrospective study including all patients who underwent ACTHstimT between 20072015, in one center, during which 11 DOC levels were routinely measured as part of the test. Clinical data was collected from the patients’ medical files and, by telephone calls for complete long-term follow-up. 11DOC levels before and after ACTHstimT were categorized as elevated according to both pre-defined cut-offs; greater than 1.5 times the 95th percentile according to Lashansky1 normal level for sex and age, and greater than 1.5 times the upper limit of the normal level of the commercial kit. Results: Data were complete at presentation for 136 patients, 92 females, and for long for 98 patients, 68 females, mean follow up duration of 3.1 years (1.37,5.09). There was no statistically significant difference in the number of cases with elevated 11DOC according to both cut-offs, among patients with precocious and early puberty, premature adrenarche nor acne. Higher baseline and stimulated 11 DOC levels were demonstrated in females who presented with mild hirsutism and regular menses. Long term data demonstrated no statistically significant difference in the number of cases with elevated 11DOC levels among patients with compromised final adult height, PCOS or hyperandrogenism. There was negative correlation between stimulated 11 DOC levels and basal levels of testosterone, androstenedione and DHEAS levels. Conclusions: This report demonstrates that the current interpretation of 11DOC levels, basal and ACTHstimulated in children, according to 1.5 times the highest range, of both, the Lashansky1 acceptable norms for children, and some of the laboratory’s kit, are not clinically applicable.1Lashansky G, Saenger P, Fishman K, Gautier T, Mayes D, Berg G and Reiter E. Normative data for adrenal steroidogenesis in a healthy pediatric population: Age- and sex-related changes after adrenocorticotropin stimulation. J. Clin. Endocrinol. Metab. 1991; 73(3): 674-686.

Sign in / Sign up

Export Citation Format

Share Document