Gastrointestinal manifestations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patient: major effect on treatment and prognosis.

Summary: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive inherited syndrome caused by mutations in autoimmune regulator (AIRE) gene. The three clinical components of this syndrome are mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. In addition to these frequent symptoms, many other components have been reported including gastrointestinal manifestations.

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Background: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic.

Methods: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes.

Clinical, immunological, and genetic investigations in a rare association of type 1 diabetes with xeroderma pigmentosum.

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. Autoimmune diseases related to XP are rarely discussed in the literature. Type 1 diabetes (T1D) has been associated with other genodermatoses like Cockayne syndrome, but it has never been described in XP.

Concomitant coexistence of ACTH-dependent and independent Cushing syndrome.

We report a case of a patient who presented for ACTH-dependent Cushing after a confirmed hypercortisolism and an inadequate normal ACTH. A transsphenoidal surgery of a pituitary picoadenoma has been done. After surgery, the patient showed the persistence of hypercortisolism.

Association of an empty sella and grave´s disease in a patient with acromegaly: a case report.

Acromegaly is, in most cases, caused by growth hormone secreting pituitary adenomas. Those patients often develop different pathologies of the thyroid gland, however, the occurrence of Grave´s disease is quite a rare situation. We report a case of a 64-year-old female patient who presented with signs of hyperthyroidism and imbalance of her diabetes mellitus.

Safety Assessment and Potential Risks of the Glucagon Stimulation Test in the Diagnosis of Secondary Adrenal Insufficiency.

Background: Although it takes more time, the Glucagon Stimulation Test (GST) is a reliable measure for assessing growth hormone (GH) and Adrenocorticotropic Hormone (ACTH) secretion. The GST is considered to be a safe test; however, it still has mild side effects and potential risks.

Objectives: The objective of this study was to analyze the side effects of the GST while testing adrenal-insufficient patients.

Pituitary apoplexy of a giant prolactinoma during pregnancy.

Aims And Methods: Prolactinomas are a common cause of sexual dysfunction and infertility. We aimed, through this case report, to illustrate the difficulties of management of women with giant prolactinoma, especially in cases of desire of pregnancy.

Results: A 30-year-old woman was referred to our department for secondary amenorrhea.

Quality of Life and Work Productivity Impairment of Patients with Allergic Occupational Rhinitis.

Background: Several studies demonstrated the negative impact of allergic rhinitis on Quality of Life (QOL) and occupational activities. Similar studies on allergic Occupational Rhinitis (OR) are rare. The aim of this study was to evaluate the QOL and work productivity of patients diagnosed with allergic occupational rhinitis.

[Posttraumatic type 1 diabetes in an army soldier].

The influence of stress as a precipitating factor associated with the onset of type 1 diabetes have been widely studied in the literature. The relationship between physical and psychological traumas and diabetes has been rarely studied in the military environment. Posttraumatic diabetes is a controversial topic.

Cortisol cut-points for the glucagon stimulation test in the evaluation of hypothalamic pituitary adrenal axis.

Diagnosis of adrenal insufficiency requires evaluation by dynamic stimulation tests. The insulin tolerance test (ITT) is accepted as the gold-standard test for the evaluation of hypothalamo-pituitary-adrenal (HPA) axis but the test is unpleasant and dangerous. Although it takes more time, glucagon stimulation test (GST) is a good alternative to ITT.

Assessing the adrenal axis by the glucagon stimulation test in children with idiopathic growth hormone deficiency.

Approximately 30% of children with idiopathic growth hormone deficiency (IGHD) also suffer from other pituitary hormone deficien-cies. Of children with IGHD, approximately 10% are unable to generate appropriate ACTH levels in response to stress. This study was prospectively designed to test the integrity of the adrenal axis in patients with an established diagnosis of IGHD using the glucagon stimulation test (GST).

Macroprolactinemia and Empty Sella Syndrome.

Macroprolactinemia is a polymeric form of prolactin-release, causing mildly symptomatic clinical pictures. The former can be isolated or associated with other causes of hyperprolactinemia. The association with an empty sella syndrome is rare.

[Prolactin-secreting microadenoma in menopausal women].

Prolactin-secreting adenoma is rare in elderly women. Patient's clinical picture may be confused with that of menopause, making diagnosis sometimes difficult. We report the case of a 57-year old woman with a 2-year history of secondary amenorrhea without hot flushes associated with galactorrhea in order to highlight the peculiarities of prolactin-secreting microadenomas.

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

Background: Autosomal dominant hypercholesterolemia (ADH) is commonly caused by mutations in the low-density lipoprotein (LDL) receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB), or in the proprotein convertase subtilisin kexine 9 gene (PCSK9). ADH subjects carrying a mutation in LDLR present highly variable plasma LDL-cholesterol (LDL-C). This variability might be due to environmental factors or the effect of some modifying genes such as PCSK9 and APOE.

A whole mitochondrial genome screening in a MELAS patient: a novel mitochondrial tRNA(Val) mutation.

Mitochondrial encephalopathy, lactic acidosis and strokelike episodes (MELAS) syndrome is a mitochondrial disorder characterized by a wide variety of clinical presentations and a multisystemic organ involvement. In this study, we report a Tunisian girl with clinical features of MELAS syndrome who was negative for the common m.3243A>G mutation, but also for the reported mitochondrial DNA (mtDNA) mutations and deletions.

Graves' disease associated with cerebrovascular disease and antiphospholipid antibody syndrome.

Thyroid disorders are commonly associated with coagulopathy. Patients with hyperthyroidism have increased risk for developing thromboembolic accidents, which are favoured by a simultaneous presence of antiphospholipid antibodies syndrome. in this paper, we describe the case of a patient with Graves' disease, who developed strokes with antiphospholipid antibodies syndrome.

Common polymorphisms of calpain-10 and the risk of Type 2 Diabetes in a Tunisian Arab population: a case-control study.

Background: Genetic variations in the calpain-10 gene (CAPN10), in particular the at-risk diplotype (112/121), were previously implicated with increased risk of type 2 diabetes (T2D).

Methods: We examined the association of CAPN10 UCSNP-43 (rs3792267), UCSNP-19 (rs3842570), and UCSNP-63 (rs5030952) SNPs with T2D in 917 Tunisian T2D patients and 748 non-diabetic controls. CAPN10 genotyping was done by PCR-RFLP.

Identification of specific angiotensin-converting enzyme variants and haplotypes that confer risk and protection against type 2 diabetic nephropathy.

Background: Cross-sectional and family studies identified angiotensin-converting enzyme (ACE) gene as a risk factor for diabetic nephropathy (DN). The contribution of ACE gene variants to DN development and progression is controversial and varies among different ethnic/racial groups.

Methods: We investigated the association of three ACE gene variants with DN, rs1799752 insertion/deletion (I/D), rs1800764T/C and rs12449782A/G in 917 Tunisian type 2 diabetic (T2DM) patients: 515 with (DN) and 402 without (DWN) nephropathy.

Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.

Background: Candidate gene and genome-wide association studies have both reproducibly identified several common Single Nucleotide Polymorphisms (SNPs) that confer type 2 diabetes (T2D) risk in European populations. Our aim was to evaluate the contribution to T2D of five of these established T2D-associated loci in the Arabic population from Tunisia.

Methods: A case-control design comprising 884 type 2 diabetic patients and 513 control subjects living in the East-Center of Tunisia was used to analyze the contribution to T2D of the following SNPs: E23K in KCNJ11/Kir6.

Predictive value of interleukin-10 promoter genotypes and haplotypes in determining the susceptibility to nephropathy in type 2 diabetes patients.

Background: The IL-10 promoter polymorphisms -1082G/A, -819C/T, and -592C/A have been consistently associated with type 2 diabetes (T2DM). We examined whether these polymorphisms variants are also associated with progression of diabetic nephropathy (DN).

Methods: These promoter variants were genotyped in 917 T2DM patients comprising 515 DN patients and 402 control patients without nephropathy (DWN), together with 748 non-diabetic control subjects.

Interleukin-10-592C/A, -819C/T and -1082A/G promoter variants affect the susceptibility to nephropathy in Tunisian type 2 diabetes (T2DM) patients.

Background: The Interleukin (IL)-10 polymorphic variants -1082G/A, -819C/T and -592C/A were linked with obesity, metabolic syndrome, and type 2 diabetes (T2DM). We investigated the hypothesis that IL-10 promoter polymorphisms may be associated with the progression of diabetic nephropathy (DN).

Design: Case-controlled study.

Association of endothelial nitric oxide synthase Glu298Asp, 4b/a, and -786T>C gene variants with diabetic nephropathy.

Background: Nitric oxide (NO) produced by endothelial NO synthase (eNOS) mediates a wide range of processes, and abnormal NO production mediated diabetes complications, including diabetic nephropathy (DN). In view of their impact on eNOS activity, polymorphisms in eNOS gene were described as candidates for atherosclerosis and DN.

Aims: We evaluated the association of -786T>C (promoter region), Glu298Asp (Exon 7), and 4b4a (Intron 4) polymorphisms in eNOS gene with Type 2 diabetes mellitus (T2DM) and DN by haplotype analysis.