A Sporadic Case of Pseudohypoparathyroidism Type 1 and Idiopathic Primary Adrenal Insufficiency Associated with a Novel Mutation in theGNAS1Gene

2014 ◽  
Vol 20 (10) ◽  
pp. e202-e206 ◽  
Author(s):  
Santosh Chaubey ◽  
Kunwarjit Sangla
Keyword(s):  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Sporadic Case ◽  
Primary Adrenal Insufficiency

IMPORTANCE OF ANTIBODIES TO 21-HYDROXYLASE FOR THE DIAGNOSIS, DIFFERENTIAL DIAGNOSIS AND PROGNOSIS OF AUTOIMMUNE CHRONIC PRIMARY ADRENAL INSUFFICIENCY

2021 ◽  
Vol 100 (2) ◽  
pp. 78-86
Author(s):  
L.S. Sozaeva ◽  
◽  
N.V. Makazan ◽  
L.V. Nikankina ◽  
N.M. Malysheva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Adrenal Insufficiency ◽  
Predictive Value ◽  
Primary Adrenal Insufficiency ◽  
Polyglandular Autoimmune Syndrome ◽  
Diagnosis And Prognosis ◽  
Specificity And Sensitivity ◽  
Enzymelinked Immunosorbent Assay

21-hydroxylase (21-OH) is the main antigen of the adrenal cortex, so the determination of antibodies (Ab) to 21-OH can help in the diagnosis and prognosis of chronic primary adrenal insufficiency (CPAI). Purpose of the study: evaluation of the relevance of Ab to 21-OH for the diagnosis and prediction of autoimmune CPAI. Materials and methods of research: the study consisted of three blocks: 1) assessment of the specificity and sensitivity, as well as the prognostic potential of Ab to 21-OH in patients with polyglandular autoimmune syndrome (APS) – individuals with APS type 1 with and without CPAI (n=106); 2) assessment of the dynamics of the level of Ab to 21-OH – patients with autoimmune CPAI were included (n=41); 3) assessment of the significance of Ab data for the differential diagnosis of various forms of CPAI, including patients with CPAI and APS type 1 exclusion (n=30). The study of Ab to 21-hydroxylase was performed using enzymelinked immunosorbent assay (BioVendor kits, Czech Republic). Results: statistically significant differences were obtained in the frequency of detection of Ab to 21-OH in patients with or without PCNI (p<0,001). The sensitivity of the method was 96%, specificity was 75%, a positive predictive value was 90%, and the negative predictive value was 89%. In 83% of patients, the level of Ab decreased with time (median size decreases – 20,4%/year). An inverse relationship was also found between the level of Ab and the duration of the course of CPAI (R=–0,460, p<0,001). In a group of 30 patients with CPAI and with exclusion of APS type 1, 21 were found to have Ab to 21-OH, only one of them had a monogenic non-autoimmune cause of CPAI (a mutation in the MC2R gene). Monogenic forms of CPAI were found in another 7 patients (mutations were found in the DAX1 and ABCD1 genes), among them an increase in Ab to 21-OH was not detected. Conclusion: determination of Ab to 21-OH is a specific and sensitive method for the diagnosis of autoimmune CPAI. An increase in Ab to 21-OH is a risk marker of autoimmune CPAI development.

scholarly journals A case of late manifestation of primary adrenal insufficiency in the autoimmune polyglandular syndrome type 1

2019 ◽  
Vol 47 (2) ◽  
pp. 175-179
Author(s):  
V. V. Troshina ◽  
T. A. Grebennikova ◽  
Zh. E. Belaya
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Case ◽  
Clinical Symptoms ◽  
Syndrome Type ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyglandular Syndrome ◽  
Autoimmune Polyendocrine Syndrome ◽  
Autoimmune Polyglandular Syndrome Type ◽  
Timely Treatment

The article describes a clinical case of primary adrenal insufficiency which manifested at an atypically advanced age. Primary adrenal insufficiency combined with other clinical symptoms suggested the autoimmune polyendocrine syndrome type 1. Subsequently, the diagnosis was confirmed by the results of genetic testing. The particulars of the clinical case include the age of patient at manifestation of the disease (49  years). The lack of treatment resulted in dramatic clinical decompensation. This clinical case is intended to draw clinicians' attention to the necessity of detection of primary adrenal insufficiency and appropriate and timely treatment. Taking into account eventual diagnostic problems, it is necessary to raise awareness about this disease among practicing doctors of various specialties.

An unusual presentation of primary adrenal insufficiency with new onset type 1 diabetes: case report and review of the literature

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Shelby Graf ◽  
Rachel Stork Poeppelman ◽  
Jennifer McVean ◽  
Arpana Rayannavar ◽  
Muna Sunni
Keyword(s):  
Type 1 Diabetes ◽  
Adrenal Insufficiency ◽  
Diabetic Ketoacidosis ◽  
Serum Cortisol ◽  
Unusual Presentation ◽  
Primary Adrenal Insufficiency ◽  
Onset Type ◽  
Autoimmune Conditions ◽  
New Onset

Abstract Objectives To describe an atypical presentation of primary adrenal insufficiency in conjunction with new onset type 1 diabetes. Case presentation Here, we describe a case of new-onset type 1 diabetes (T1D) presenting simultaneously with an unusual presentation of primary adrenal insufficiency in a previously healthy 16-year-old. He was admitted for a typical presentation of diabetic ketoacidosis, but with extreme hyponatremia. An extensive workup revealed a low aldosterone level, appropriate cortisol level, and positive 21-hydroxylase antibodies. While the phenomenon of multiple autoimmune conditions developing in the same patient is well-described, this particular case has several atypical aspects. Our patient’s case highlights the danger of relying on random serum cortisol in the setting of acute illness to rule out adrenal insufficiency. Conclusions Adrenal insufficiency can present as isolated hypoaldosteronism without hypocortisolemia and can manifest as severe hyponatremia in the context of diabetic ketoacidosis. Workup for an unusual presentation of T1D should include a 21-hydroxylase antibody, as well as thyroid and celiac disease studies.

Autoimmune polyglandular syndromes in the adults: the genetic and immunological diagnostic criteria

2014 ◽  
Vol 60 (3) ◽  
pp. 43-52 ◽  
Author(s):  
A A Larina ◽  
E A Troshina ◽  
O N Ivanova
Keyword(s):  
Adrenal Insufficiency ◽  
Thyroid Diseases ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Aire Gene ◽  
Patients At Risk ◽  
Type 3 ◽  
Cortical Dysfunction

At present, four main types of autoimmune polyglandular syndromes (APS) are distinguished. Type 1 APS is associated with candidiasis, primary hypoparathyroidism, and primary adrenal insufficiency developing in the childhood as a result of mutations in the AIRE gene. Type 2 APS involves primary adrenal insufficiency in combination with autoimmune thyroid diseases and/or type 1 diabetes mellitus. Type 3 APS is characterized by the combination of autoimmune thyroid diseases with other endocrine and non-endocrine autoimmune pathologies in the absence of adrenal cortical dysfunction and hypoparathyriodism. Type 4 APS is presented by the combinations of autoimmune diseases other than the aforementioned ones. The above syndromes usually manifest themselves at the age between 20 and 60 years; they are of the polygenic type and associated with the genetic markers, such as HLAII-complex haplotypes, CTLA-4, PTPN22, FOXP3 genes, etc. In addition, the latent forms of APS have been described that occur in the populations much more frequently than the manifest disorders. These latent diseases can exert strong influence on the compensation and risk of complications of the underlying pathology. Of great importance in this context is the timely identification of the groups of patients at risk of developing clinical forms of APS among the subjects presenting with a single endocrine pathology.

scholarly journals Adrenocorticotropin-Dependent Precocious Puberty of Testicular Origin in a Boy with X-Linked Adrenal Hypoplasia Congenita Due to a Novel Mutation in the DAX1 Gene

2001 ◽  
Vol 86 (9) ◽  
pp. 4068-4071 ◽  
Author(s):  
Sorahia Domenice ◽  
Ana Claudia Latronico ◽  
Vinicius Nahime Brito ◽  
Ivo Jorge Prado Arnhold ◽  
Fernando Kok ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Precocious Puberty ◽  
Stop Codon ◽  
Novel Mutation ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Premature Stop Codon ◽  
Rare Condition ◽  
Coding Region ◽  
Primary Adrenal Insufficiency

Primary adrenal insufficiency is a rare condition in pediatric age, and its association with precocious sexual development is very uncommon. We report a 2-yr-old Brazilian boy with DAX1 gene mutation whose first clinical manifestation was isosexual gonadotropin-independent precocious puberty. He presented with pubic hair, enlarged penis and testes, and advanced bone age. T levels were elevated, whereas basal and GnRH-stimulated LH levels were compatible with a prepubertal pattern. Chronic GnRH agonist therapy did not reduce T levels, supporting the diagnosis of gonadotropin-independent precocious puberty. Testotoxicosis was ruled out after normal sequencing of exon 11 of the LH receptor gene. At age 3 yr he developed clinical and hormonal features of severe primary adrenal insufficiency. The entire coding region of the DAX1 gene was analyzed through direct sequencing. A nucleotide G insertion between nucleotides 430 and 431 in exon 1, resulting in a novel frameshift mutation and a premature stop codon at position 71 of DAX-1, was identified. Surprisingly, steroid replacement therapy induced a clear decrease in testicular size and T levels to the prepubertal range. These findings suggest that chronic excessive ACTH levels resulting from adrenal insufficiency may stimulate Leydig cells and lead to gonadotropin-independent precocious puberty in some boys with DAX1 gene mutations.

scholarly journals Altered insulin requirement in patients with type 1 diabetes and primary adrenal insufficiency receiving standard glucocorticoid replacement therapy

2009 ◽  
Vol 160 (6) ◽  
pp. 919-924 ◽  
Author(s):  
Ulf Elbelt ◽  
Stefanie Hahner ◽  
Bruno Allolio
Keyword(s):  
Type 1 Diabetes ◽  
Adrenal Insufficiency ◽  
Replacement Therapy ◽  
Insulin Requirement ◽  
Insulin Regimen ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Polyendocrine Syndrome ◽  
The Mean ◽  
Glucocorticoid Replacement Therapy

ObjectiveCurrent glucocorticoid replacement regimens fail to fully mimic physiologic cortisol secretion in patients with primary adrenal insufficiency. This may lead to changes in insulin requirement in patients with primary adrenal insufficiency and type 1 diabetes. Therefore, we assessed insulin requirement in patients with autoimmune polyendocrine syndrome type 2 (APS-2).Design and subjectsTen females with primary adrenal insufficiency and type 1 diabetes (mean duration of type 1 diabetes 13±11 years and of primary adrenal insufficiency 11±9 years) were retrospectively assessed regarding insulin regimen and insulin dose adjustment. Data were compared with control patients matched for age, sex and duration of diabetes drawn from all patients with type 1 diabetes attending the diabetes outpatient clinics at the University Hospital Wuerzburg for a scheduled consultation.ResultsGlycaemia was well controlled in both groups (mean HbA1c 6.99±0.81% in APS-2 patients versus 6.69±1.03% in control patients). The mean weight-adjusted daily dose of insulin was non-significantly higher in patients with APS-2 compared with control patients (0.69±0.35 IU/kg body weight versus 0.51±0.17 respectively). The mean insulin (IU)/carbohydrate-ratio for 10 g of carbohydrate in the morning was 1.9±1.0 and 1.4±0.5 respectively. However, the insulin/carbohydrate-ratios were significantly higher in the APS-2 patients both at noon (mean ratio 2.0±0.9 vs 1.1±0.5 in control patients) and in the evening (mean ratio 2.1±1.1 vs 1.3±0.5 respectively; P<0.05).ConclusionsGlucocorticoid replacement therapy in patients with primary adrenal insufficiency and type 1 diabetes leads to significant changes in insulin requirement compared with patients with type 1 diabetes only.

scholarly journals Primary Adrenal Insufficiency Caused by a Novel Mutation in DAX1 Gene

2013 ◽  
Vol 5 (1) ◽  
pp. 55-57 ◽  
Author(s):  
Evliyaoğlu Olcay ◽  
Dokurel İpek ◽  
Bucak Feride ◽  
Özcabı Bahar ◽  
Ercan Oya ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Novel Mutation ◽  
Primary Adrenal Insufficiency

scholarly journals Metabolic control in patients with type 1 diabetes mellitus at the onset of primary adrenal insufficiency

2013 ◽  
Vol 10 (2) ◽  
pp. 38-41
Author(s):  
A A Larina ◽  
E A Troshina
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Type 1 Diabetes Mellitus ◽  
Adrenal Insufficiency ◽  
Insulin Requirement ◽  
Primary Adrenal Insufficiency ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Recurrent Hypoglycemia

Primary adrenal insufficiency is a rare disorder but it is more common in patients with type 1 diabetes mellitus (T1DM) or autoimmune thyroid diseases than in the general population. T1DM may precede the development of adrenocortical insufficiency. Addison’s disease can influence the glycemic control in patients with T1DM worsening glucose metabolism. It causes the decrease of gluconeogenesis, reduction in total insulin requirement and rather often «unexplained» recurrent hypoglycemia. Glucocorticoid replacement therapy in patients with primary adrenal insufficiency and T1DM increases the insulin requirement. The article presents the development of primary adrenal insufficiency in a patient with type 1 DM and autoimmune hypothyroidism, accompanied with incidents of recurrent hypoglycemia.

Sign in / Sign up

Export Citation Format

Share Document