scholarly journals X-linked congenital adrenal hypoplasia: a case presentation

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Hong Ouyang ◽  
Bo Chen ◽  
Na Wu ◽  
Ling Li ◽  
Runyu Du ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Case Presentation ◽  
Early Symptoms ◽  
Congenital Adrenal Hypoplasia ◽  
Adrenal Hypoplasia

Abstract Background Most patients with congenital adrenal hypoplasia (AHC) develop symptoms during infantile and juvenile periods, with varying clinical manifestations. AHC is a disease that is easily misdiagnosed as Addison’s disease or congenital adrenal hyperplasia (CAH). There was also a significant time difference between the age at which patients developed symptoms and the age at which they were diagnosed with AHC. Most patients showed early symptoms during infantile and juvenile periods, but were diagnosed with AHC many years later. Case presentation We are currently reporting a male patient who developed systemic pigmentation at age 2 and was initially diagnosed with Addison’s disease. At 22 years of age, he experienced a slipped capital femoral epiphysis (SCFE), a disease mostly seen in adolescents aged 8–15 years, an important cause of which is endocrine disorder. Testes evaluated using color Doppler Ultrasonography suggested microcalcifications. Further genetic testing and auxiliary examinations revealed that the patient had hypogonadotropic hypogonadism (HH) and DAX-1 gene disorders, at which time he was diagnosed with AHC complicated by HH. He was given hormone replacement therapy, followed by regular outpatient review to adjust the medication. Conclusions The typical early symptoms of AHC are hyperpigmentation and ion disturbance during infantile and juvenile periods, while few patients with AHC develop puberty disorders as early symptoms. AHC is prone to being misdiagnosed as Addison’s disease, and then gradually develops the symptoms of HH in adolescence. The definitive diagnosis of AHC ultimately is based on the patient’s clinical presentation, laboratory results and genetic testing results.

scholarly journals SAT-LB43 Allgrove’s: A Syndrome for the “A”ges

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Richard Bailey ◽  
Alexandra Nyquist ◽  
David Tyler Broome ◽  
Robert S Zimmerman ◽  
Vinni Makin
Keyword(s):  
Genetic Testing ◽  
Adrenal Insufficiency ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Triple A Syndrome ◽  
Acth Stimulation ◽  
The Third ◽  
Baseline Cortisol

Abstract Allgrove’s syndrome is an inherited condition caused by mutations in the AAAS gene (encoding the protein ALADIN) and is inherited in an autosomal recessive pattern (1). It classically is characterized by three specific features: achalasia, Addison’s disease, and alacrima (reduced or absent ability to secrete tears). This has led to the name “Triple A syndrome”, and some have suggested a 4th ‘A’ of autonomic disturbance (2). It is important to note that the phenotype of this condition is variable, and some patients may have all three (or four) of the manifestations at initial presentation, and that other patients may develop or have worsening of the ‘As’ over time. In this clinical vignette, we present a patient with Allgrove’s syndrome who developed clinical manifestations of the third ‘A’ of Addison’s disease later in life. A 46-year-old female patient presented to our tertiary referral center for follow-up of Allgrove’s disease after having been diagnosed with genetic testing as an adolescent. Prior to presentation, she underwent esophagectomy in 1995 and additionally had confirmed alacrima with ophthalmology. She was undergoing annual surveillance testing with 8 am cortisol and ACTH stimulation testing to monitor for the development of adrenal insufficiency. Prior to consultation, her baseline cortisol was 8.7 ug/dL. At presentation and the age of 46, her ACTH stimulation test (0.25 mg cosyntropin, 3 timepoints) was positive for adrenal insufficiency with a baseline cortisol of < 0.5 ug/dL (8 am), with 30-minute value of 4.4 ug/dL and 60-minute value of 6.3 ug/dL (peak). She was started on replacement dosing of hydrocortisone 20 mg at 8 am and 10 mg at 2 pm, in addition to calcium and vitamin D supplementation. Of note, her adrenal antibody (21-hydroxylase antibodies) were negative on two separate occasions. Allgrove’s syndrome is a rare condition described by the development of three, or at times four, characteristics with support of genetic testing. This case demonstrates that patients with Allgrove’s syndrome can present with two clinical manifestations of the condition (alicrima and achalasia) and develop the third (adrenal insufficiency) later in life. Therefore, regular screening for the missing clinical manifestation of this disease should be considered. References: 1. National Institute of Health: Genetic and Rare Disease Information Center. Triple A Syndrome. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/triple-a-syndrome. Accessed 2/1/2020. 2. Kimber J, McLean BN, Prevett M, Hammans SR. Allgrove or 4 “A” syndrome: an autosomal recessive syndrome causing multisystem neurological disease. J Neurol Neurosurg Psychiatry. 2003;74:654-657.

scholarly journals Identification of NR0B1 Gene Mutation and Analysis of Bone Damages and Drug Treatment Effect in a Big Family With X-linked Adrenal Hypoplasia Congenita: a Case Report

2021 ◽  
Author(s):  
XIAOHUI TAO ◽  
LI LIU ◽  
XIAOYUN LIN ◽  
TIAN XU ◽  
HUA YUE ◽  
...  
Keyword(s):  
Mass Density ◽  
Hypogonadotropic Hypogonadism ◽  
Clinical Manifestations ◽  
Osteonecrosis Of The Jaw ◽  
Bone Mass Density ◽  
Insertion Mutation ◽  
Case Presentation ◽  
Skeletal Complications ◽  
Adrenal Hypoplasia

Abstract Background: X-linked congenital adrenocortical hypoplasia (XL-AHC) is a rare disorder, which is characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism. However, the skeletal complications caused by the disease were rarely reported, not to mention the treatment.Case presentation: The patient from a big family with XL-AHC was identified carrying a homozygous insertion mutation（p.Thr193GlyfsX13）in DAX-1 gene. The diagnosis of secondary osteoporosis was made after imaging, laboratory and bone mass density examinations. However, he showed a suboptimal response to bisphosphonates during 2 years of follow-up, even suffered from atypical femoral fracture (AFF). Now it had been replaced by menatetrenone, bone healing was satisfactory. Conclusions: We harbored the idea that clinicians should not only focus on typical clinical manifestations of XL-AHC, but also pay attention to the skeletal complications in clinical practice. Conventional anti-osteoporosis drugs may cause side effects such as AFF and osteonecrosis of the jaw (ONJ), which was rare in general osteoporosis patients. In other words, anabolic agent may be a better choice.

Plasma Adrenocorticotrophic Hormone in Addison's Disease and its Modification by the Administration of Adrenal Steroids

PEDIATRICS ◽  
1958 ◽  
Vol 21 (4) ◽  
pp. 660-660
Keyword(s):  
Venous Blood ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Normal Subjects ◽  
Suppressive Effect ◽  
Addison's Disease ◽  
Adrenal Steroids ◽  
Adrenocorticotrophic Hormone ◽  
Mean Concentration ◽  
Normal Adults

Adrenal steroids exert a depressant effect on the release of pituitary adrenocorticotrophic hormone. It is therefore of interest to ascertain whether there is an increased secretion of ACTH in Addison's disease because of the deficiency of adrenal steroids in the plasma in this condition. The concentration of ACTH was determined by measuring the production of corticosteroids in the hypophysectomized dog as a measure of the amount of ACTH in plasma obtained from humans. In normal adults the amount of ACTH circulating in the plasma is so small that 20 to 31 ml of plasma does not contain sufficient ACTH to cause a significant increase in adrenal corticosteroids in adrenal venous blood collected from the test animal. Fifty-one determinations in 32 patients with adrenal insufficiency revealed a mean concentration of ACTH in the plasma which was significantly elevated over that found for plasma from 16 controlled samples obtained from normal subjects. The increased concentration of ACTH found in 10 patients with Addison's disease was significantly reduced by the intravenous infusion of hydrocortisone. It was not possible to correlate the increased concentration of ACTH in the plasma of patients with Addison's disease with the clinical manifestations or duration of the disease. The relative suppressive effect of various amounts and kinds of corticosteroids was studied.

The natural history of autoimmune Addison’s disease with a non-classical presentation: a case report and review of literature

2018 ◽  
Vol 56 (6) ◽  
pp. 896-900 ◽  
Author(s):  
Jacopo Manso ◽  
Raffaele Pezzani ◽  
Riccardo Scarpa ◽  
Nicoletta Gallo ◽  
Corrado Betterle
Keyword(s):  
Natural History ◽  
Adrenal Cortex ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Plasma Renin ◽  
Dehydroepiandrosterone Sulfate ◽  
Addison's Disease ◽  
Acth Stimulation ◽  
Basal Cortisol ◽  
History Of

Abstract Autoimmune Addison’s disease (AAD) is the most frequent cause of adrenocortical insufficiency. The natural history of AAD usually comprises five consecutive stages with the first stage characterized by the increase of plasma renin consistent with the impairment of pars glomerulosa, which is usually the first affected layer of the adrenal cortex. We describe a 19-year-old female with Hashimoto’s thyroiditis (HT) who underwent an autoantibody screening due to having the personal and family history of other autoimmune diseases in the absence of relevant clinical manifestations. She was positive for adrenal cortex autoantibodies (ACA) and steroid 21-hydroxylase autoantibodies (21-OH Ab) at high titers. She had increased basal levels of ACTH with normal basal cortisol not responding to ACTH stimulation, reduced levels of dehydroepiandrosterone-sulfate but normal levels of orthostatic renin and aldosterone. This scenario was consistent with a subclinical AAD presenting with first impairments in pars fasciculata and reticularis and conserved pars glomerulosa function. Only subsequently, progressive deficiency in pars glomerulosa function has become evident. Review of the literature showed that there was only one case, reported to date, with a similar atypical natural history of AAD. The strategies for screening for ACA/21-OH Ab in patients with HT are discussed.

scholarly journals Slipped Capital Femoral Epiphysis Associated With Hypogonadism: A Case Report And Literature Review

2022 ◽  
Author(s):  
Sachiko Kitagawa ◽  
Kenjiro Wakabayashi ◽  
Yoshiteru Azuma ◽  
Hirokazu Kurahashi ◽  
Kei Takazawa ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Hormone Therapy ◽  
Case Reports ◽  
Hormone Replacement ◽  
Slipped Capital Femoral Epiphysis ◽  
Hormone Deficiency ◽  
Case Presentation ◽  
Posterior Tilt ◽  
Meta Analyses

Abstract Background: Slipped capital femoral epiphysis (SCFE) is a displacement of the femoral head epiphysis that is sometimes associated with endocrinopathies. We report the case of a 12-year-old girl with hypergonadotropic hypogonadism (HH) who developed SCFE during growth hormone therapy (GHT). We also performed a systematic review of the cases of SCFE and hypogonadism in the literature. Case presentation: The patient was diagnosed with HH based on the absence of ovaries and a uterus. Her medical history included GHT for 9 years as she was small for gestational age. Chromosomal and genetic analyses revealed no pathogenic abnormalities. Radiographs revealed a left SCFE with a 28.7° posterior tilt angle. GHT was discontinued, and bilateral in situ screw fixation was performed. Sex hormone therapy (SHT) was initiated. Two years later, the patient recovered.Methods: We reviewed the cases of hypogonadism complicated with SCFE. The guidelines of the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 statement were followed. Case reports of patients were retrieved using PubMed on November 17, 2021.Results: A total of 44 cases of SCFE and hypogonadism were identified, including this case. Endocrinological complications included growth hormone deficiency (n = 18), being overweight (n = 9), and hypothyroidism (n = 25). Hormone replacement was administered before (SHT, n = 6; GHT, n = 12) and after surgery (SHT, n = 21; GHT, n = 11). SCFE surgery was invasive (minimal, n = 19; moderate, n = 10; high, n = 8). Orthopedic complications were observed in four cases. Conclusions: If hypogonadism occurs during GHT, SCFE should be noted. Hypogonadism should be studied to determine the effects of hormonal replacement on SCFE.

Problems in Diagnosis of Addison’s Disease and its Misdiagnosis as Chronic Kidney Disease (CKD): A Case Report

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Tahereh Sabaghian ◽  
Minoo Heidari Almasi
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Failure ◽  
Kidney Disease ◽  
Addison’S Disease ◽  
Primary Diagnosis ◽  
Adrenal Crisis ◽  
Addison's Disease ◽  
Adrenal Failure ◽  
Case Presentation ◽  
Endocrine Diseases

Introduction: Chronic kidney disease (CKD) rarely occurs at the same time as endocrine diseases such as adrenal failure. There are some reports of cases with acute kidney failure accompanied by Addison’s disease and adrenal crisis. The studied case was a patient with Addison’s disease referring with manifestations of AKI on CKD and hyperkalemia without hypotension. Case Presentation: This report describes a 34-year-old man with the primary diagnosis of CKD and the subsequent diagnosis of Addison’s disease. Conclusions: Since renal failure is accompanied by hyperkalemia, the diagnosis of adrenal failure will be difficult in the case of no obvious hyponatremia and hypotension. Thus, it is necessary to carefully check the clinical and laboratory symptoms and high clinical suspicions in CKD patients.

scholarly journals Diagnosis of hereditary hemorrhagic telangiectasia in a pediatric patient admitted with diabetes: the utility of genetic testing

2021 ◽  
Vol 2 (3) ◽  
pp. 01-02
Author(s):  
Alvaro E. Galvis ◽  
Beatrice Batoczki ◽  
Iris S. Pecson ◽  
Evan Vidal ◽  
Craig T. Nakamura
Keyword(s):  
Genetic Testing ◽  
Pediatric Patient ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Clinical Manifestations ◽  
Autosomal Dominant Disorder ◽  
Case Presentation ◽  
History Of ◽  
Vascular Dysplasia

Background: Hereditary hemorrhagic telangiectasia (HHT) formerly known as Osler-Weber-Rendu syndrome is a rare autosomal dominant disorder characterized by vascular dysplasia and a wide spectrum of clinical manifestations. Case presentation: We report the case of an undiagnosed pediatric patient who presented hypoxemia on clinical exam as the only suggestive feature for the presence of HHT. Conclusions: Although HHT diagnosis is based on the finding of characteristic clinical features genetic testing should also be implemented when a family history of the disease is present to help confirm or refute the diagnosis.

scholarly journals Addison’s disease associated with hypokalemia: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
M. Abdalla ◽  
J. A. Dave ◽  
I. L. Ross
Keyword(s):  
Adrenal Insufficiency ◽  
Medical Condition ◽  
Addison’S Disease ◽  
Severe Hypoglycemia ◽  
High Plasma ◽  
Addison's Disease ◽  
Primary Adrenal Insufficiency ◽  
Case Presentation ◽  
Low Concentrations ◽  
History Of

Abstract Background Primary adrenal insufficiency (Addison's disease) is a rare medical condition usually associated with hyperkalemia or normokalemia. We report a rare case of Addison's disease, coexisting with hypokalemia, requiring treatment. Case presentation In this case, a 42-year-old man was admitted to the intensive care unit with a history of loss of consciousness and severe hypoglycemia. His blood tests showed metabolic acidosis, low concentrations of cortisol 6 nmol/L (normal 68–327 nmol/L), and high plasma adrenocorticotropic hormone 253 pmol/L (normal 1.6–13.9 pmol/L), and he was diagnosed with primary adrenal insufficiency. Surprisingly, his serum potassium was low, 2.3 mmol/L (normal 3.5–5.1 mmol/L), requiring replacement over the course of his admission. Computed tomography scan of the adrenal glands showed features suggestive of unilateral adrenal tuberculosis. Investigations confirmed renal tubulopathy. The patient responded favorably to cortisol replacement, but never required fludrocortisone. Conclusions Coexistence of hypokalemia with Addison’s disease is unusual. We recommend investigation of the cause of hypokalemia in its own right, if it occurs with primary adrenal insufficiency.

scholarly journals Mutational analysis of the autoimmune regulator (AIRE) gene in sporadic autoimmune Addison's disease can reveal patients with unidentified autoimmune polyendocrine syndrome type I

2002 ◽  
pp. 519-522 ◽  
Author(s):  
AS Boe ◽  
PM Knappskog ◽  
AG Myhre ◽  
JI Sorheim ◽  
ES Husebye
Keyword(s):  
Mutational Analysis ◽  
Clinical Manifestations ◽  
Addison’S Disease ◽  
Addison's Disease ◽  
Common Mutation ◽  
Type I ◽  
Syndrome Type ◽  
Autoimmune Regulator ◽  
Aire Gene ◽  
Autoimmune Polyendocrine Syndrome

OBJECTIVE: To investigate whether patients with Addison's disease and polyendocrine syndromes have undiagnosed autoimmune polyendocrine syndrome type I (APS I). MATERIALS AND METHODS: Forty patients with clinical manifestations resembling APS I and with autoantibodies typical of this condition were screened for Norwegian autoimmune regulator (AIRE) gene mutations. RESULTS: A 30-year old man who had developed Addison' s disease at the age of 12, but had no other components of APS I, was homozygous for the 1094-1106 deletion mutation in exon 8 of the AIRE gene, the most common mutation found in Norway. CONCLUSIONS: APS I patients with milder and atypical phenotypes are difficult to diagnose on clinical grounds. Autoantibody analysis and mutational analysis of AIRE may therefore be helpful modalities for identifying these individuals.

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