scholarly journals Pregnancy outcome in women with APECED (APS-1) – A multicenter study on 43 females with 83 pregnancies

2021 ◽  
Author(s):  
Saila Laakso ◽  
Elina Holopainen ◽  
Corrado Betterle ◽  
Viivi Saari ◽  
Elinor Vogt ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Perinatal Complications ◽  
Preterm Baby ◽  
Primary Adrenal Insufficiency ◽  
Ovum Donation ◽  
Induced Abortions ◽  
National Patient ◽  
Fetal Complications ◽  
Ectopic Pregnancies

Abstract Context Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED or APS-1) has a severe, unpredictable course. Autoimmunity and disease components may affect fertility and predispose to maternal and fetal complications, but pregnancy outcomes remain unknown. Objective To assess fetal and maternal outcomes and course of clinical APECED manifestations during pregnancy in women with APECED. Design and setting A multicenter registry-based study including five national patient cohorts. Patients 321 females with APECED. Main outcome measure Number of pregnancies, miscarriages, and deliveries. Results Forty-three patients had altogether 83 pregnancies at median age of 27 years (range, 17–39). Sixty (72%) pregnancies led to a delivery, including two stillbirths (2.4%) and five (7.1%) preterm livebirths. Miscarriages, induced abortions, and ectopic pregnancies were observed in 14 (17%), eight (10%), and one (1.2%) of pregnancies, respectively. Ovum donation resulted in five (6.0%) pregnancies. High maternal age, premature ovarian insufficiency, primary adrenal insufficiency, or hypoparathyroidism did not associate with miscarriages. Women with livebirth had on average four APECED manifestations (range 0–10); 78% had hypoparathyroidism and 36% had primary adrenal insufficiency. APECED manifestations remained mostly stable during pregnancy, but in one case development of primary adrenal insufficiency led to adrenal crisis and stillbirth. Birth weights were normal in >80% and apart from one neonatal death of a preterm baby, no serious perinatal complications occurred. Conclusions Outcome of pregnancy in women with APECED was generally favorable. However, APECED warrants careful maternal multidisciplinary follow-up from pre-conceptual care until puerperium.

scholarly journals Adrenal Crisis in Long Term Use of Exogenous Steroid With Inappropriate Tapering off Process

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A108-A109
Author(s):  
Nani Oktavia ◽  
Chici Pratiwi ◽  
Jerry Nasaruddin ◽  
Muhammad Ikhsan Mokoagow ◽  
Marina Epriliawati ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Blood Glucose ◽  
Adrenal Insufficiency ◽  
Clinical Manifestations ◽  
Adrenal Crisis ◽  
High Dose ◽  
Symptomatic Therapy ◽  
Bowel Sound ◽  
Primary Adrenal Insufficiency

Abstract Background: Adrenal crisis is an emergency condition in endocrinology that commonly found in primary adrenal insufficiency but also occur in chronic adrenal insufficiency triggered by various conditions such as sepsis, infection, trauma, burns, surgery, and myocardial infarction. In chronic adrenal insufficiency, adrenal crisis can be induced by excessive reductions or inadequate discontinuation of steroid treatment. Case Illustration: A 40-year old-man admitted with chief complaint abdominal pain since seven days before admission. He felt pain in the umbilical area and slowly radiated to all the part of abdomen. Other than that, he also felt nausea, had vomitus, fever, and constipation for five days. He was immobilized for four months, with muscles weakness and atrophy. He was diagnosed with Focal Segmented Glomerulosclerosis and had a high dose of methylprednisolone (48 mg) for 6 months, 40 mg for the next 2 months and methylprednisolone 12 mg for the last 2 months. The last two month, he began to have severe general weakness and hypotension. On physical examination we found hypotension, fever (38.1o C), pale conjunctiva, moon face, buffalo hump, slightly distended and tenderness of abdomen, normal bowel sound, and purple striae all over the abdomen and extremities. On laboratory examination, Hb was 8.2 (n 11.7 – 15.5 g/dl), leukocytes 10,400 (5.00 – 10.00 x 103/μL), Na 123 (n 135 – 147 mmol/L), random blood glucose 74 (n 70 – 140 mg/dL). On abdominal X ray, there was prominent faecal material and no signs of ileus. No sign of infection found in urinalysis. He had sodium correction, packed red cell transfusion, symptomatic therapy including laxative, methylprednisolone 12 mg, but no improvement of signs and symptoms beside be able to defecate. The abdominal ultrasound gave a normal result. The morning cortisol level was then examined, with the result 14.4 (n 3.7–19.4). The patient was then diagnosed with adrenal crisis based on the clinical manifestations and had hydrocortisone therapy 100 mg a day for 2 consecutive days. After hydrocortisone administration, the symptoms improved, no fever and abdominal pain, he had normotension, increased sodium level 132 (n 135 – 147 mmol/L) and blood glucose level 118 (n 70 – 140 mg/dL). On the third day the patient discharged with oral hydrocortisone 15 mg in the morning and 10 mg in the afternoon. Conclusion: Adrenal crisis was generally found in primary adrenal insufficiency but could also occur in secondary adrenal insufficiency due to inappropriate tapering off process of long term glucocorticoid use.

scholarly journals Tiered healthcare in South Africa exposes deficiencies in management and more patients with infectious etiology of primary adrenal insufficiency

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241845
Author(s):  
Thabiso Rafaki Petrus Mofokeng ◽  
Kwazi Celani Zwakele Ndlovu ◽  
Salem A. Beshyah ◽  
Ian L. Ross
Keyword(s):  
South Africa ◽  
Adrenal Insufficiency ◽  
Online Survey ◽  
Management Strategies ◽  
Adrenal Crisis ◽  
Public Healthcare ◽  
Antibody Testing ◽  
Management Options ◽  
Primary Adrenal Insufficiency ◽  
The Public

Objective We wished to determine the prevalence, etiology, presentation, and available management strategies for primary adrenal insufficiency (PAI) in South Africa (SA), hypothesizing a prevalence greater than the described 3.1 per million. There is great inequity in healthcare allocation, as two parallel healthcare systems exist, potentially modifying PAI patients’ clinical profiles, private being better resourced than public healthcare. Methods An online survey of physicians’ experience relating to PAI. Results The physicians were managing 811 patients, equal to a prevalence of 14.2 per million. Likely causes of PAI in public/ academic vs private settings included: AIDS-related [304 (44.8%) vs 5 (3.8%); p<0.001], tuberculosis [288 (42.5%) vs 8 (6.0%); p<0.001], autoimmune disease [50 (7.4%) vs 88 (66.2%); p<0.001], malignancy [27 (4.0%) vs 7 (5.3%); p = 0.500], genetic including adrenoleukodystrophy (ALD) [5 (0.7%) vs 16 (12.0%); p<0.001], respectively. Overall, more patients presented with nausea [101 (74.3%) and vomiting 89 (65.9%), than diarrhoea 76 (58.9%); p = 0.008 and 126 (15.5%) in adrenal crisis. Features suggestive of a crisis were hypoglycaemia [40 (78.4%) vs 42 (48.8%); p = 0.001], shock [36 (67.9%) vs 31(36.9%); p<0.001], and loss of consciousness [25 (52.1%) vs 27 (32.9%); p = 0.031]. Greater unavailability of antibody testing in the public vs. the private sector [32 (66.7%) vs 30 (32.1%); p = 0.001], [serum-ACTH 25 (52.1%) vs 16 (19.5%); p<0.001] and glucocorticoids were [26 (54.2%) vs 33 (40.2%); p = 0.015]. Many patients, 389(66.7%) were not using identification, indicating that they need steroids in an emergency. Conclusion A survey of South African physicians suggests a higher prevalence than previously reported. Patients presented with typical symptoms, and 15.5% presented in adrenal crisis. Significant disparities in the availability of physicians’ expertise, diagnostic resources, and management options were noted in the public versus private settings. Greater awareness among health practitioners to timeously diagnose PAI is required to prevent a life-threatening outcome.

scholarly journals Reduction in daily hydrocortisone dose improves bone health in primary adrenal insufficiency

2016 ◽  
Vol 174 (4) ◽  
pp. 531-538 ◽  
Author(s):  
Julia Schulz ◽  
Kathrin R Frey ◽  
Mark S Cooper ◽  
Kathrin Zopf ◽  
Manfred Ventz ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Mineral Density ◽  
Primary Adrenal Insufficiency ◽  
Group Reduction ◽  
Group 3 ◽  
Group 2 ◽  
Over Time ◽  
Group 1

ObjectiveIndividuals with primary adrenal insufficiency (PAI) or congenital adrenal hyperplasia (CAH) receive life-long glucocorticoid (GC) replacement therapy. Current daily GC doses are still higher than the reported adrenal cortisol production rate. This GC excess could result in long-term morbidities such as osteoporosis. No prospective trials have investigated the long-term effect of GC dose changes in PAI and CAH patients.MethodsThis is a prospective and longitudinal study including 57 subjects with PAI (42 women) and 33 with CAH (21 women). Bone mineral density (BMD) was measured by dual energy X-ray absorptiometry at baseline and after 2 years. Subjects were divided into three groups (similar baseline characteristics) depending on changes in daily hydrocortisone equivalent dose (group 1: unchanged 25.2±8.2 mg (mean±s.d., n=50); group 2: increased 18.7±10.3 to 25.9±12.0 mg (n=13); group 3: decreased 30.8±8.5 to 21.4±7.2 mg (n=27)).ResultsSubjects in group 1 showed normal lumbar and femoral Z-scores which were unchanged over time. Group 2 subjects showed a significant decrease in femoral neck Z-scores over time (−0.15±1.1 to −0.37±1.0 (P<0.05)), whereas group 3 subjects showed a significant increase in lumbar spine and hip Z-scores (L1–L4: −0.93±1.2 to –0.65±1.5 (P<0.05); total hip: −0.40±1.0 to −0.28±1.0 (P<0.05)). No changes in BMI over time were seen within any group. Reduction in GC dose did not increase the risk of adrenal crisis.ConclusionThis study demonstrates for the first time that cautious reduction in hydrocortisone equivalent doses leads to increases in BMD, whereas dose increments reduced BMD. These data emphasize the need for the lowest possible GC replacement dose in AI patients to maintain health and avoid long-term adverse effects.

scholarly journals SUN-164 Adrenal Crisis in Early Pregnancy

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Jenny Carolina Bello ◽  
Xiaolei Chen ◽  
Kenneth K Chen
Keyword(s):  
Adrenal Insufficiency ◽  
Normal Pregnancy ◽  
Nausea And Vomiting ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Early Presentation ◽  
Delay In Diagnosis ◽  
Medical Disorders ◽  
Free Cortisol ◽  
In Pregnancy

Abstract Nausea and vomiting are common symptoms in pregnancy, ranging from occasional nausea to fulminant and intractable vomiting. Many underlying metabolic disorders can mimic this, primary adrenal insufficiency (PAI) being one of them. Here, we present a case of adrenal insufficiency early in pregnancy. A 28 year old lady G1P0 at 8 weeks of gestations, with a past medical history of Grave’s Disease, presented to our hospital on 3 occasions over one week with severe intractable nausea and vomiting. On prior visits, she had received intravenous fluids and discharged home. Laboratory work-up was ordered on the third visit and she was found to have severe hyponatremia with level of 111mMol/L. TSH and FT4 levels were both within the reference range. AM cortisol level was low at 2.3mcg/dL. ACTH and renin were both significantly elevated confirming diagnosis of PAI. Intravenous hydrocortisone was commenced immediately with rapid resolution of her symptoms and correction of her hyponatremia. She was followed at the endocrinology clinic, with appropriate up-titration of glucocorticoid and mineralocorticoid doses throughout her pregnancy. Diagnosis of PAI is usually established prior to pregnancy. Presentation during pregnancy is not common, but it should be considered as a differential diagnosis when symptoms are out of proportion to the gestational status. Normal pregnancy is accompanied by progressive increase in circulating CRH and ACTH, increasing the levels of free cortisol as early as 7 weeks of gestation, rising up to 20-fold by the end of pregnancy. These physiologic changes could explain early presentation of adrenal crisis given insufficient glucocorticoid production. A delay in diagnosis and treatment increases the risk of maternal and fetal morbidity and mortality significantly. Management of PAI during pregnancy can be challenging as there are no established guidelines and they have mainly been based on observational studies (1). The appropriate selection and dose of the glucocorticoid is important for the treatment of PAI to minimize adverse effects on mother and baby (2). At the time of active labor and delivery, stress doses of glucocorticoids need to be administered to prevent adrenal crisis (3). In conclusion, early diagnosis and appropriate management of PAI during pregnancy is necessary to sustain a healthy pregnancy. Bibliography 1 Husebye ES, Allolio B, Arlt W, et al. Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency. J Intern Med 2014; 275: 104– 15. 2 Bandoli G, Palmsten K, Forbess C, et al. A review of systemic corticosteroid use in pregnancy and the risk of select pregnancy and birth outcomes. Rheum Dis Clin North Am. 2017; 43(3): 489–502 3 Chen K, Powrie R. Approach to the use of Glucocorticoids in Pregnancy for Nonobstetric Indications. de Swiet’s Medical Disorders in Obstetric Practice: Fifth Edition. 736-741.

scholarly journals RECURRENT INVASIVE DUCTAL BREAST CARCINOMA PRESENTING AS PRIMARY ADRENAL INSUFFICIENCY WITH ADRENAL CRISIS

2020 ◽  
Vol 6 (2) ◽  
pp. e50-e53
Author(s):  
Mitha Madhava Naik ◽  
Michael James Nestasie ◽  
Murray B. Gordon
Keyword(s):  
Breast Carcinoma ◽  
Adrenal Insufficiency ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Invasive Ductal Breast Carcinoma ◽  
Ductal Breast Carcinoma ◽  
First Case ◽  
History Of ◽  
Recurrent Breast ◽  
Work Up

Objective: We report the first case of recurrent ductal breast carcinoma presenting as primary adrenal insufficiency. Methods: We describe a patient who developed a recurrence of invasive ductal breast carcinoma which went undetected until the patient presented with fulminant adrenal crisis. We describe here an overview of the clinical presentation, work-up, diagnosis, and treatment of adrenal crisis. Results: Adrenal crisis due to bilateral adrenal metastases secondary to invasive ductal breast carcinoma is an exceedingly rare occurrence. To our knowledge, this is the first case of recurrent breast carcinoma in which the presenting feature is primary adrenal insufficiency. Conclusion: Patients with a history of breast carcinoma and bilateral adrenal enlargement should be evaluated for the presence of primary adrenal insufficiency.

Assessment of autoantibodies against 21-hydroxylase in the diagnosis of primary autoimmune adrenal insufficiency

2020 ◽  
Author(s):  
Leila Sozaeva ◽  
Nadezhda Makazan ◽  
Larisa Nikankina ◽  
Natalya Malysheva ◽  
Ekaterina Kuvaldina ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Patient Survival ◽  
Adrenal Crisis ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Steroidogenesis ◽  
Threatening Condition ◽  
Life Threatening ◽  
The One

Primary adrenal insufficiency is manifested by a deficiency of adrenal cortex hormones and can lead to a life-threatening condition. Early diagnosis is key to patient survival. Auto-antibodies to one of the adrenal steroidogenesis enzymes, 21-hydroxylase, are an immunological marker of autoimmune adrenal insufficiency. On the one hand, the study of antibodies to 21-hydroxylase is a method that helps establish the etiology of the disease the autoimmune genesis of adrenal gland damage. On the other hand, the determination of autoantibodies to 21-hydroxylase is the only prognostic factor of the risk of adrenal insufficiency, which makes it possible to prevent the development of acute adrenal crisis. The article provides a brief literature review on autoantibodies to 21-hydroxylase and the pathogenesis of autoimmune adrenal insufficiency, and a series of clinical cases that illustrates the significant role of autoantibodies to 21-hydroxylase in diagnosis of adrenal insufficiency.

Etiology of primary adrenal insufficiency in children: a 29-year single-center experience

2019 ◽  
Vol 32 (6) ◽  
pp. 615-622 ◽  
Author(s):  
Melati Wijaya ◽  
Ma Huamei ◽  
Zhang Jun ◽  
Minlian Du ◽  
Yanhong Li ◽  
...  
Keyword(s):  
Adrenal Insufficiency ◽  
Clinical Characteristics ◽  
Clinical Symptoms ◽  
Wide Spectrum ◽  
Adult Population ◽  
Adrenal Crisis ◽  
Hydroxylase Deficiency ◽  
Primary Adrenal Insufficiency ◽  
Genital Ambiguity ◽  
21 Hydroxylase Deficiency

Abstract Background Primary adrenal insufficiency (PAI) in children is a rare condition and potentially lethal. The clinical characteristics are non-specific. It may be manifested as a chronic condition or crisis. The etiologies of PAI in children are different from the adult population. Therefore, diagnostic investigation becomes challenging. Methods A retrospective study was conducted at The First Affiliated Sun Yat Sen University Pediatric Endocrine unit between September 1989 and July 2016. Results A total of 434 patients (237 males, 197 females) were identified as having PAI. Congenital adrenal hyperplasia (CAH) was the most frequent etiology (83.4%, n = 362, male:female = 174:188), of which 351 (97.2%) were 21-hydroxylase deficiency (21-OH) CAH. Non-CAH etiology accounted for 11.3% (n = 49, male:female = 47:2), of which 46 (93.9%) were of non-autoimmune. The etiologies of the 49 cases were adrenoleukodystrophy (ALD; n = 22), X-linked adrenal hypoplasia congenital (X-AHC; n = 20), autoimmune polyglandular syndrome (APS; n = 3), triple A syndrome (n = 2), steroidogenic factor 1 (SF-1) gene mutation (n = 1) and adrenalectomy (n = 1). The etiology was not identified for 23 patients (5.3%, male:female =16:7). Clinical symptoms were in accordance with the incidence of genital ambiguity (42.6%), digestive symptoms (vomiting and diarrhea) (35.5%), failure to thrive (26.5%), gonadal-associated symptom (premature puberty, sexual infantilism and amenorrhea) (21.2%), hyperpigmentation (9.7%), adrenal crisis (AC; 4.1%), neurological symptoms (3.2%), fatigue (2.5%) and prolonged jaundice (2.1%). Through physical examination, 58.5% were found to have hyperpigmentation. Conclusions This study spanned 29 years at our institution. The etiology of PAI in children was mostly of congenital forms, which exhibits a wide spectrum of clinical characteristics. For etiological diagnosis, chromosomal karyotyping is recommended for female phenotype patients.

scholarly journals Bilateral adrenal masses due to tuberculosis: how to diagnose without extra-adrenal tuberculosis

2021 ◽  
Vol 2021 ◽  
Author(s):  
Nam Quang Tran ◽  
Chien Cong Phan ◽  
Thao Thi Phuong Doan ◽  
Thang Viet Tran
Keyword(s):  
Adrenal Insufficiency ◽  
Plasma Cortisol ◽  
Histopathological Examination ◽  
Epigastric Pain ◽  
High Plasma ◽  
Diagnostic Process ◽  
Adrenal Crisis ◽  
List Type ◽  
Primary Adrenal Insufficiency ◽  
Adrenal Masses

Summary Primary adrenal insufficiency is a rare disease and can masquerade as other conditions; therefore, it is sometimes incorrectly diagnosed. Herein, we reported the case of a 39-year-old Vietnamese male with primary adrenal insufficiency due to bilateral adrenal tuberculosis. The patient presented to the emergency room with acute adrenal crisis and a 3-day history of nausea, vomiting, epigastric pain, and diarrhoea with a background of 6 months of fatigue, weight loss, and anorexia. Abdominal CT revealed bilateral adrenal masses. Biochemically, unequivocal low morning plasma cortisol (<83 nmol/L) and high plasma adrenocorticotropic hormone levels were consistent with primary adrenal insufficiency. There was no evidence of malignancy or lymphoma. As the patient was from a tuberculosis-endemic area, extra-adrenal tuberculosis was excluded during the work up. A retroperitoneal laparoscopic left adrenalectomy was performed, and tuberculous adrenalitis was confirmed by the histopathological results. The patient was started on antituberculous therapy, in addition to glucocorticoid replacement. In conclusion, even without evidence of extra-adrenal tuberculosis, a diagnosis of bilateral adrenal tuberculosis is required. A histopathological examination has a significant role along with clinical judgement and hormonal workup in establishing a definitive diagnosis of adrenal tuberculosis without evidence of active extra-adrenal involvement. Learning points Primary adrenal insufficiency can be misdiagnosed as other mimicking diseases, such as gastrointestinal illness, leading to diagnostic pitfalls. Adrenal insufficiency can be confirmed with significantly low morning plasma cortisol levels of <83 nmol/L without a dynamic short cosyntropin stimulation test. Tuberculous adrenalitis is an uncommon treatable condition; however, it remains an important cause of primary adrenal insufficiency, especially in developing countries. In the absence of extra-adrenal involvement, adrenal biopsy plays a key role in the diagnostic process. Alternatively, adrenalectomy for histopathological purposes should be considered if CT scan-guided fine needle aspiration is infeasible in cases of small adrenal masses.

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