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Fertility and Sterility Apr 2006To present a case of primary male infertility with severe oligospermia and hyperpigmented skin as the main presenting clinical signs.
OBJECTIVE
To present a case of primary male infertility with severe oligospermia and hyperpigmented skin as the main presenting clinical signs.
DESIGN
Case report.
SETTING
University-affiliated teaching hospital.
PATIENT(S)
A 32-year-old male with severe oligospermia and his 31-year-old female partner with normal cycles.
INTERVENTION(S)
Hydrocortisone, fludrocortisone, methimazole, and eventual IVF.
MAIN OUTCOME MEASURE(S)
Improved semen analysis, correction of Addison's disease, correction of hyperthyroidism, and ART pregnancy.
RESULT(S)
Severe oligospermia of 5 million per milliliter with 15% motility and ACTH level of 2,800 pg/mL on presentation. Endocrinology evaluation revealed cortisol of <0.1 microg/dL, and Cortrosyn test showed no response (Addison's disease). The patient was incidentally found to have a thyroid stimulating hormone level of <0.1 microIU/mL, T4 of 9.5 microg/dL, Free T4 Index calculation of 11.6 microg/dL, and quantitative triiodothyronine of 273 ng/dL on presentation. His Addison's disease was managed with hydrocortisone and fludrocortisone, and his hyperthyroidism, with methimazole. Semen parameters increased to 34 million per milliliter with 45% motility and 5% Kruger morphology 1 year after initial presentation. Hormone parameters normalized. Rather than allowing for more time for natural conception or IUI, the couple decided to proceed with IVF because of insurance coverage before semen parameters normalized.
CONCLUSION(S)
This is the first reported case of Addison's disease presenting as male infertility with hyperpigmentation of the skin being the only other presenting sign. The underlying etiology of the Addison's in this case remains uncertain, but it is presumed because of autoimmunity. Addison's disease may be associated with hyperthyroidism, and hyperthyroidism may have contributed to the oligospermia. This case highlights why men with abnormal semen parameters should be thoroughly evaluated before proceeding with assisted reproduction.
Topics: Addison Disease; Adult; Diagnosis, Differential; Humans; Infertility, Male; Male; Methimazole
PubMed: 16580396
DOI: 10.1016/j.fertnstert.2005.09.056 -
BMC Endocrine Disorders Aug 2017Primary adrenal insufficiency (PAI) is a rare and severe condition requiring lifelong steroid replacement. During acute illness or stressful events, it is important to...
BACKGROUND
Primary adrenal insufficiency (PAI) is a rare and severe condition requiring lifelong steroid replacement. During acute illness or stressful events, it is important to appropriately adjust glucocorticoid dose; failure to do so may lead to an adrenal crisis. The aim of the study was to explore patients PAI knowledge and understanding of the condition, steroid replacement adjustment during acute illness or stress and provided education.
METHODS
Ten adult patients with PAI were purposefully recruited from two hospitals in a tertiary NHS Trust in England, UK. Data was collected using a mixed method approach utilising semi-structured audio-recorded interviews and hospital case note review. Interviews were transcribed verbatim and analysed using Burnard's content analysis framework. Information from the hospital case note review was captured using a matrix table based on pre-defined criteria.
RESULTS
Four key themes emerged: 'Addison's disease and hydrocortisone replacement'; 'stress and corticosteroids'; 'patient compliance/adherence' and 'transition'. Patients reported feelings of 'going through a transition from uncertainty to adaption' following diagnosis. All participants had a good level of knowledge and understanding of required medication however application in times of need was poor. Medication adherence and prevention of a crisis relied not only on patient knowledge and application but also the support of family and health professionals. Health care professional knowledge required improvement to aid diagnosis and management of PAI.
CONCLUSION
Patients with PAI did not apply existing knowledge to adjust steroid dose during acute illness or stress. Although a sample of limited size, our study identified there is a need to further explore why patients with Addison's disease do not apply existing knowledge during times of increased need. Future research should consider appropriate behaviour change interventions to promote medication adherence to reduce risk of an adrenal crisis.
Topics: Addison Disease; Adrenal Insufficiency; Adult; Female; Follow-Up Studies; Health Knowledge, Attitudes, Practice; Hormone Replacement Therapy; Humans; Male; Medication Adherence; Middle Aged; Patient Education as Topic; Prognosis; Young Adult
PubMed: 28764794
DOI: 10.1186/s12902-017-0196-0 -
BMJ Case Reports Jan 2013A 30-year-old man presented with a 6- month history of nausea, vomiting and diarrhoea. This was associated with 25 kg weight loss and a right-sided abdominal colic. He...
A 30-year-old man presented with a 6- month history of nausea, vomiting and diarrhoea. This was associated with 25 kg weight loss and a right-sided abdominal colic. He had been provisionally diagnosed with Crohn's disease 6 months back and treated with budesonide and mesalazine. Investigations including C reactive protein, white cell count, coeliac antibodies, fasting gut hormones and faecal elastase were all normal. Colonoscopy and ileoscopy were normal both macroscopically and microscopically. Small bowel series and labelled white cell scan were both unremarkable. A CT scan suggested the presence of mild right-sided abdominal lymphadenopathy. Laparoscopy of entire small bowel and colon was normal. But had something been missed? An adrenocorticotrophic hormone stimulation test demonstrated inadequate cortisol response and a diagnosis of adrenal insufficiency was confirmed. Addison's disease can present with a variety of gastrointestinal symptoms and should be considered in the diagnostic work-up of these patients.
Topics: Addison Disease; Adult; Crohn Disease; Diagnostic Errors; Humans; Male
PubMed: 23314454
DOI: 10.1136/bcr-2012-008051 -
Journal of Veterinary Internal Medicine 1989Primary hypoadrenocorticism was diagnosed in ten young to middle-aged cats of mixed breeding. Five of the cats were male, and five were female. Historic signs included...
Primary hypoadrenocorticism was diagnosed in ten young to middle-aged cats of mixed breeding. Five of the cats were male, and five were female. Historic signs included lethargy (n = 10), anorexia (n = 10), weight loss (n = 9), vomiting (n = 4), and polyuria (n = 3). Dehydration (n = 9), hypothermia (n = 8), prolonged capillary refill time (n = 5), weak pulse (n = 5), collapse (n = 3), and sinus bradycardia (n = 2) were found on physical examination. Results of initial laboratory tests revealed anemia (n = 3), absolute lymphocytosis (n = 2), absolute eosinophilia (n = 1), and azotemia and hyperphosphatemia (n = 10). Serum electrolyte changes included hyponatremia (n = 10), hyperkalemia (n = 9), hypochloremia (n = 9), and hypercalcemia (n = 1). The diagnosis of primary adrenocortical insufficiency was established on the basis of results of adrenocorticotropic hormone (ACTH) stimulation tests (n = 10) and endogenous plasma ACTH determinations (n = 7). Initial therapy for hypoadrenocorticism included intravenous administration of 0.9% saline and dexamethasone and intramuscular administration of desoxycorticosterone acetate in oil. Three cats were euthanatized shortly after diagnosis because of poor clinical response. Results of necropsy examination were unremarkable except for complete destruction of both adrenal cortices. Seven cats were treated chronically with oral prednisone or intramuscular methylprednisolone acetate for glucocorticoid supplementation and with oral fludrocortisone acetate or intramuscular injections of repository desoxycorticosterone pivalate for mineralocorticoid replacement. One cat died after 47 days of therapy from unknown causes; the other six cats are still alive and well after 3 to 70 months of treatment.
Topics: Addison Disease; Adrenocorticotropic Hormone; Animals; Cat Diseases; Cats; Dexamethasone; Female; Glucocorticoids; Hydrocortisone; Male; Sodium Chloride
PubMed: 2469793
DOI: 10.1111/j.1939-1676.1989.tb03080.x -
Archivum Immunologiae Et Therapiae... Jun 2017Mitochondrial antiviral signaling (MAVS) protein is an intracellular adaptor molecule, downstream of viral sensors, retinoid acid-inducible gene I (RIG-I)-like receptors...
Mitochondrial antiviral signaling (MAVS) protein is an intracellular adaptor molecule, downstream of viral sensors, retinoid acid-inducible gene I (RIG-I)-like receptors (RLRs). Impaired antiviral cell signaling might contribute to autoimmunity. Studies have recently shown variations in genes encoding RLRs as risk factors for autoimmune diseases. We investigated whether MAVS coding polymorphisms are associated with Addison's disease (AD) and type 1 diabetes (T1D) in Polish population. We genotyped 140 AD, 532 T1D patients and 600 healthy controls for MAVS rs17857295, rs7262903, rs45437096 and rs7269320. Genotyping was performed by TaqMan assays. Distribution of the MAVS genotypes and alleles did not reveal significant differences between patients and controls (p > 0.05). This analysis did not indicate the association of the MAVS locus with susceptibility to AD and T1D.
Topics: Adaptor Proteins, Signal Transducing; Addison Disease; Adult; DNA Mutational Analysis; Diabetes Mellitus, Type 1; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Male; Middle Aged; Poland; Polymorphism, Single Nucleotide; Risk Factors
PubMed: 27652379
DOI: 10.1007/s00005-016-0426-6 -
Endocrine Aug 2019Despite adequate glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy, primary adrenal insufficiency (AI) is associated with an increased mortality, mainly...
BACKGROUND
Despite adequate glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy, primary adrenal insufficiency (AI) is associated with an increased mortality, mainly due to cardiovascular disease. The role of MC replacement is not known. Therefore, we assessed whether renin concentrations during routine GC and MC substitution therapy are associated with heart function and morphology.
METHODS
Thirty two patients with primary AI were included in a cross-sectional case-control study. In total, 17 patients and 34 healthy controls (age: 48 ± 12 vs. 46 ± 18 years; BMI: 23 ± 3 vs. 24 ± 3 kg/m) underwent magnetic resonance spectroscopy and imaging measurements to assess cardiac function, morphology, ectopic lipids, and visceral/subcutaneous fat mass. Patients were divided according to their actual plasma renin concentration at the study visit (Actual-Renin vs. Actual-Renin) and their median plasma renin concentration of previous visits (Median-Renin vs. Median-Renin).
RESULTS
Ejection fraction was higher (67 ± 5 vs. 55 ± 3%; p = 0.001) and left ventricular mass was lower (60 ± 9 vs. 73 ± 10 g/m; p = 0.025) in Actual-Renin. Median-Renin was associated with lower cardiac mass (64 ± 9 vs. 76 ± 11 g/m; p = 0.029). Blood pressure, glucose, and lipid metabolism, as well as ectopic lipid content, pericardial fat mass, and visceral/subcutaneous fat were not different between the groups. Compared with controls, ejection fraction was significantly lower in patients with AI (56 ± 4 vs. 63 ± 8%; p = 0.019). No differences were found in patients with ≤20 mg compared with >20 mg of hydrocortisone per day.
CONCLUSIONS
Higher renin concentrations are associated with more favorable cardiac function and morphology in patients with primary AI.
Topics: Addison Disease; Adult; Aged; Anti-Inflammatory Agents; Case-Control Studies; Cross-Sectional Studies; Female; Heart; Hormone Replacement Therapy; Humans; Hydrocortisone; Magnetic Resonance Spectroscopy; Male; Middle Aged; Pilot Projects; Renin; Stroke Volume
PubMed: 31177424
DOI: 10.1007/s12020-019-01974-1 -
Journal of Endocrinological... Nov 2022Our study aimed to investigate the prevalence and demographic characteristics of immune checkpoint inhibitor-associated primary adrenal insufficiency (ICI-PAI) and to...
BACKGROUND
Our study aimed to investigate the prevalence and demographic characteristics of immune checkpoint inhibitor-associated primary adrenal insufficiency (ICI-PAI) and to explore the risk factors of its clinical outcome using data from the US FDA Adverse Event Reporting System (FAERS).
METHODS
This was a retrospective study. All cases of new-onset or newly diagnosed primary adrenal insufficiency associated with FDA-approved ICIs from 1 January 2007 to 31 December 2020 were identified and collected using FAERS. Data on age, sex category, body weight of the participating individuals, the reporting year and the prognosis of cases, and other accompanying endocrinopathies related to ICIs, were analysed.
RESULTS
The incidence of ICI-PAI was 1.03% (1180/114121). Of the 1180 cases of PAI, 46 were "confirmed PAI", and 1134 were "suspected PAI". Combination therapy with anti-CTLA-4 and anti-PD-1 was related to a higher risk of PAI compared with the anti-PD-1-only group (χ = 92.88, p < 0.001). Male and elderly individuals showed a higher risk of ICI-PAI (male vs. female, 1.17% vs. 0.94%, χ = 12.55, p < 0.001; age < 65 vs. ≥ 65, 1.20 vs. 1.41%, χ = 6.89, p = 0.009). The co-occurrence rate of endocrinopathies other than PAI was 24.3%, which showed a higher trend in patients on nivolumab-ipilimumab treatment than in those on PD-1 inhibitors (χ = 3.227, p = 0.072). Body weight was negatively associated with the risk of death in the study population [p = 0.033 for the regression model; B = - 0.017, OR 0.984, 95% CI (0.969-0.998), p = 0.029].
CONCLUSION
ICI-associated PAI is a rare but important irAE. Male and elderly patients have a higher risk of ICI-PAI. Awareness among clinicians is critical when patients with a lower body weight develop PAI, which indicates a higher risk of a poor clinical outcome.
Topics: Addison Disease; Aged; Body Weight; Endocrine System Diseases; Female; Humans; Immune Checkpoint Inhibitors; Ipilimumab; Male; Nivolumab; Retrospective Studies
PubMed: 35870109
DOI: 10.1007/s40618-022-01845-z -
Klinische Wochenschrift Aug 1988We investigated the effect of sodium valproate on plasma ACTH and serum cortisol concentrations in different pathological states of ACTH hypersecretion. Five patients... (Clinical Trial)
Clinical Trial
UNLABELLED
We investigated the effect of sodium valproate on plasma ACTH and serum cortisol concentrations in different pathological states of ACTH hypersecretion. Five patients with pituitary dependent Cushing's syndrome, two patients with Nelson's syndrome and five patients with Addison's disease were studied. Neither a single dose nor long term administration of sodium valproate resulted in a significant decrease of plasma ACTH levels in patients with Cushing's disease and Nelson's syndrome. Furthermore, the response of ACTH and cortisol to stimulation with lysine-vasopressin was unaffected during acute and chronic treatment. Patients with Addison's disease showed a slight attenuation of the ACTH response to lysine-vasopressin as compared to placebo but the difference was not statistically significant.
IN CONCLUSION
sodium valproate does not appear to be effective in controlling ACTH hypersecretion in pituitary dependent Cushing's syndrome.
Topics: Addison Disease; Adrenocorticotropic Hormone; Cushing Syndrome; Humans; Hydrocortisone; Lypressin; Nelson Syndrome; Pituitary Neoplasms; Valproic Acid
PubMed: 2845188
DOI: 10.1007/BF01726927 -
Anales de Pediatria (Barcelona, Spain :... Jun 2013Addison's disease or primary adrenal insufficiency is a rare disease in children. The signs and symptoms at diagnosis are frequently non-specific and insidious. Since...
Addison's disease or primary adrenal insufficiency is a rare disease in children. The signs and symptoms at diagnosis are frequently non-specific and insidious. Since adrenal crisis represents an emergency, it is important to be aware and to have a high degree of suspicion of the disorder in order to achieve an early diagnosis and treatment. We present a retrospective study describing the epidemiological, clinical and etiological data at diagnosis of five patients with Addison's disease followed up in our hospital. Dehydration, hyponatremia and skin hyperpigmentation were the most prevalent signs and symptoms at onset of the disease. The patients had low serum cortisol levels and positive adrenal antibodies. One patient with negative antibodies presented with a polyglandular syndrome.
Topics: Addison Disease; Child; Child, Preschool; Humans; Male; Retrospective Studies
PubMed: 23428759
DOI: 10.1016/j.anpedi.2012.10.016 -
Canadian Family Physician Medecin de... Mar 2005
Review
Topics: Addison Disease; Adult; Diagnosis, Differential; Female; Humans; Lentigo; Lupus Erythematosus, Discoid; Melanosis
PubMed: 15794019
DOI: No ID Found