Introduction: The current study introduces a case with adrenal insufficiency that was suspected to have congenital adrenal hypoplasia because of undescended testis and failure to thrive due to muscle involvement. Case Presentation: The patient was a 34-month-old boy who had loss of consciousness, hypotension, hypoglycemia, hyponatremia and hyperkalemia with severe failure to thrive, hyper pigmentation of mucosa, hypotonia and no hypospadias. He was resistant to serum therapy and responded to hydrocortisone. Laboratory study elucidated elevated levels of adrenocorticotropin (ACTH) and muscle enzymes, decreased serum cortisol levels. Discussion: Adrenal hypoplasia congenita is a differential diagnosis for adrenal insufficiency. Undescended testis, especially in absence of hypospadiasis, is a clue to diagnose and treat this lethal disease

Ahmadi, M.

Jesmi, F.

Soheilipour, F.

eprints Iran University of Medical Sciences

J Compr Ped. 2014 May; 5(2): e17738.                                                                                                                     DOI: 10.17795/compreped-17738Published online 2014 May 10. Case ReportAdrenal Insufficiency as a Cause of Loss of Consciousness: A Case StudyFahimeh Soheilipour 1; Mohammad Ahmadi 1,*; Fatemeh Jesmi 11Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, IR Iran*Corresponding author: Mohammad Ahmadi, Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, IR Iran. Tel/Fax: +98-2156134296, E-mail: dr.ahmadi.md@gmail.com Received: January 19, 2014; Revised: April 8, 2014; Accepted: April 19, 2014Introduction: The current study introduces a case with adrenal insufficiency that was suspected to have congenital adrenal hypoplasia because of undescended testis and failure to thrive due to muscle involvement.Case Presentation: The patient was a 34-month-old boy who had loss of consciousness, hypotension, hypoglycemia, hyponatremia and hyperkalemia with severe failure to thrive, hyper pigmentation of mucosa, hypotonia and no hypospadias. He was resistant to serum therapy and responded to hydrocortisone. Laboratory study elucidated elevated levels of adrenocorticotropin (ACTH) and muscle enzymes, decreased serum cortisol levels.Discussion: Adrenal hypoplasia congenita is a differential diagnosis for adrenal insufficiency. Undescended testis, especially in absence of hypospadiasis, is a clue to diagnose and treat this lethal disease.Keywords: Adrenal Insufficiency; Adrenal Hypoplasia, Congenital; Loss of ConsciousnessImplication for health policy/practice/research/medical education:The current study aimed to report a case of adrenal insufficiency that the clinical findings  suggested  as Adrenal Hypoplasia diagnosis. It was a rare cause of adrenal insufficiency  which was not much considered, since congenital adrenal hyperplasia  most  often has similar clinical findings but totally dif-ferent pathology. Existence of ambiguous genitalia with adrenal insufficiency suggests Congenital Adrenal Hyperplasia (CAH).  The patient did not have ambiguous genitalia. Here  the exact ambiguous genitalia definition was used to emphasize that undescended testis is not always ambiguous genitalia. Adrenal hypoplasia was found simultaneously with undescended testes (UDT) without the mechanism of ambiguous genitalia.Copyright © 2014, Iranian Society of Pediatrics. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which per-mits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.1. IntroductionAdrenal cortex is a vital organ secreting three different types of hormones: aldosterone, hydrocortisone, and dehydroepiandrosterone. Clinical manifestations of ad-renal insufficiency vary based on the type of hormone and are categorized into acute, chronic and acute on chronic. Increased level of adrenocorticotropin (ACTH) causes hyperpigmentation of skin and mucosa. Congeni-tal adrenal hyperplasia (CAH) is the most common type of adrenal insufficiency. Patients with salt wasting forms of classic CAH have hypotension, hypoglycemia, hypona-tremia, and hyperkalemia (1). Adrenal hypoplasia is a rare form of adrenal insufficiency and classically causes fail-ure to thrive. Electrolyte imbalance is more prominent than hypoglycemia duo to dominance of aldosterone de-ficiency rather than cortisol deficiency (2). It is not distin-guishable from CAH only based on clinical findings. Here a 34-month-old boy case with adrenal insufficiency is in-troduced who was suspected to have adrenal hypoplasia congenital (AHC) because of undescended testis and fail-ure to thrive due to muscle involvement. Genetic study is not included in this report.2. Case PresentationThe patient was a 34-month-old boy, presented to us with vomiting, diarrhea and loss of consciousness. He had not diarrhea and vomiting, for a week.  There was no sign and symptom of urinary or respiratory infection and patient was not febrile. His medical history included failure to thrive since he was six months old and devel-opmental delay; He had not started walking, could sit with help at the time of his referral and used bi-syllabled words. His delivery was an elective cesarean section after a non-complicated term pregnancy. His parents had two other children and their first child had died at the age of 30 months, because of a disease with seizure, probably expired by similar disease. His parents were not relatives. In emergency department, he was severely dehydrated and had a Glasgow consciousness score of 10. His blood pressure was 60 mmHg with a heart rate of 135 beat/min. His skin and mucosa were hyperpigmented. His Z-score curve values of weight and height were between -2 and -3(Z-score = -2.4). Complete physical examination after hydration showed generalized hypotonia and symmetric deep tendon reflexes. In examination of genital organs no hypospadias existed and both testes were touched. Left testis was touched in inguinal canal. Patient was re-suscitated by rapid infusion of 20 mL/kg of normal saline besides dextrose serum. There was no response to serum therapy, repeated for three times; therefore, dopamine infusion was added. After blood sampling hydrocorti-Soheilipour F et al.J Compr Ped. 2014;5(2):e177382sone infusion was added.Laboratory data in Table 1, especially low serum sodium and elevated potassium and hypoglycemia guided the authors to adrenal insufficiency. According to differential diagnosis of adrenal insufficiency, hydrocortisone was continued and these factors were re-measured in blood sample (Table 2). According to decreased muscle force, in spite of adequate resuscitation, the serum test results listed in Table 3 were examined.Elevated muscle enzymes were confirmed. Electro-myography and conduction velocimetry revealed myo-pathic pattern with spontaneous opisthotonus in active phase. All of the above results guided the authors to a primary adrenal insufficiency and a myopathic process.Table 1.  Lab Date: Hypoglycemia, Hyponatremia and Hyperkale-mia Are Noted aLaboratory Test Value/UnitBlood sugar 45 mg/dLNa 120 meq/LK 5.8 meq/LAST 132 U/LALT 104 U/LAlb 4.5 g/dLESR 36 mm/hHemoglobin 9.6 g/dLPlatelets 311  109/LWBC 7.5  109/LTriglyceride 141 mg/dLCholesterol 173 mg/dLpH 7.34PCO2 32.7 mmHgHCO3 17 mMPaO2 104 mmHgO2sat 94%a Abbreviations: Alb: albumin; ALT: alanine amino transferase; AST: aspartate amino transferase; ESR: erythrocyte sedimentation rate; sat: saturation; WBC: white blood cell.Table 2.  Elevated ACTH and Suppressed Serum Cortisol Recom-mended Adrenal Insufficiency Besides Clinical FindingsLaboratory Test Value/UnitACTH level > 2000 pmol/LSerum cortisol 4.4 ng/dLTable 3.  Elevated Muscle Enzymes After StabilizationLaboratory Test Value/UnitCreatinine phosphokinase 5400 mg/dLLactate dehydrogenase 1330 mg/dLPatient was treated with dextrose saline and stress dose of hydrocortisone; the treatment was continued by ad-ministration of increasing dose of drug in diseases and stressful conditions and the patient was discharged af-ter tapering to 12 mg/m2/day hydrocortisone. After four months, he was able to walk and the growth parameters, weight and height, improved to z-scores between -1 and 0 (height Z-score = -0.5, weight Z score = -0.8). Hyper pig-mentations subsided after six months. Now the patient is six years old and is able to walk and talk and has no crisis under treatment.3. DiscussionHypotension, hypoglycemia, hyponatremia, and hy-perkalemia and mucosa hyperpigmentation guided the authors to a primary adrenal insufficiency. High level of serum ACTH and low level of serum cortisol confirmed the diagnosis. As a differential diagnosis to CAH, adre-nal hypoplasia could be considered for this patient. Improvement in growth and developmental delay af-ter corticosteroid replacement, demonstrated that the developmental delay was secondary to adrenal insuffi-ciency. The only clue to differentiate this complication from CAH is that DAX-1 gene has an antitestis activity against sex determining region (3). Its deletion leads to bilateral or unilateral cryptorchidism. Undescended testes were prevalent in reported cases of congenital adrenal hypoplasia as the current case (4). It should be considered that ambiguous genitalia are definite signs, as well as hypospadias, besides undescended testis or bilateral undescended testes (5).  Therefore the patient’s genitalia could not be considered ambiguous. He only had a unilateral undescended testis touched in ingui-nal canal. X-linked form of adrenal hypoplasia is caused by a deletion in DAX-1 gene within X chromosome and is associated with hypogonadotropic hypogonadism (6). Due to contiguous chromosome deletion, Duchene dystrophy and glycerol kinase deficiency may coexist. DAX-1 is a nuclear hormone receptor family without known ligand. It has an unknown role in adrenal cor-tex development. Autosomal recessive forms had been also reported, involving other genes (7). Some studies have reported occasional cases of AHC presenting domi-nantly with hyperpigmentation and failure to thrive. (8) Some have also reported late diagnosed cases of AHC at adulthood with lack of puberty and skeletal immaturity. (9) It is clinically vital to diagnose AHC, a rare syndrome, from the more prevalent syndrome CAH, when the signs and symptoms are not specific for AHC, as in the cur-rent case. To confirm the diagnosis and exclude CAH, it is necessary to analyze cortical steroids and evaluate DAX-1 gene deletion with karyotyping, fluorescent in situ hybridization or microarray analysis. Abdominal sonography in infants and computerized tomography scan in older children may also be helpful. A review on 16 cases of AHC has reported bone age acceleration by 60 months of life after corticosteroid therapy and has Soheilipour F et al.3J Compr Ped. 2014;5(2):e17738suggested close observation on these patients for exact follow-up of the treatment and comorbidities (8). In adrenal insufficiency, whether hyperplasia or hypopla-sia, the critical point is early diagnosis and emergent replacement of hormones as the 2002 consensus state-ment has approved (10). Since clinical manifestations vary widely based on the genetic syndrome, confirming the net diagnosis through genetic consultation is vital in order to protect other kids of the family from the same disease and prevent lethal adrenal insufficiency crises. Yet, this question remains unanswered: How can his myopathy be explained? Can cortical hormones de-ficiency be responsible for that? Documentation of AHC or CAH diagnosis by genetic study, which was not pos-sible for the current patient’s family, may be helpful to find the response. Adrenal hypoplasia congenita is a differential diagnosis for adrenal insufficiency. Unde-scended testis, especially in the absence of hypospadias, is a clue for diagnosis.AcknowledgementsAuthors wish to thank Dr. Rahimzade, pediatric ne-phrologist, for requesting endocrinology consultation.Authors’ ContributionsFahimeh Soheilipour: Treatment of the case and super-vision. Mohammad Ahmadi: Writing the article. Fatemeh Jesmi: Critical revision and rewrite.Financial DisclosureThere is no conflict of interests in the current study.Funding/SupportThere was no financial support for this article.References1.       Kelch R, Virdis R, Rappaport R, Greig F, Levine L, New M. Adrenal diseases in childhood: congenital adrenal hypoplasia. Pediatric and Adolescent Endocrinology. 1984:156–61.2.       Campo S, Moteagudo C, Nicolau G, Pellizzari E, Belgorosky A, Stivel M, et al. Testicular function in prepubertal male pseudo-hermaphroditism. Clin Endocrinol (Oxf). 1981;14(1):11–22.3.       Guo W, Burris TP, McCabe ER. Expression of DAX-1, the gene re-sponsible for X-linked adrenal hypoplasia congenita and hypo-gonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med. 1995;56(1):8–13.4.       Li N, Liu R, Zhang H, Yang J, Sun S, Zhang M, et al. Seven novel DAX1 mutations with loss of function identified in Chinese patients with congenital adrenal hypoplasia. J Clin Endocrinol Metab. 2010;95(9):E104–11.5.       van der Zanden LF, van Rooij IA, Feitz WF, Franke B, Knoers NV, Ro-eleveld N. Aetiology of hypospadias: a systematic review of genes and environment. Hum Reprod Update. 2012;18(3):260–83.6.       Weiss L, Mellinger RC. Congenital adrenal hypoplasia--an X-linked disease. J Med Genet. 1970;7(1):27–32.7.       Cole DE, Clarke LA, Riddell DC, Samson KA, Seltzer WK, Salisbury S. Congenital adrenal hypoplasia, Duchenne muscular dystro-phy, and glycerol kinase deficiency: importance of laboratory investigations in delineating a contiguous gene deletion syn-drome. Clin Chem. 1994;40(11 Pt 1):2099–103.8.       Battistin C, Menezes Filho HC, Domenice S, Nishi MY, Della Man-na T, Kuperman H, et al. A novel DAX1/NR0B1 mutation in a pa-tient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Arq Bras Endocrinol Metabol. 2012;56(8):496–500.9.       Fichna M, Zurawek M, Gut P, Sowinski J, Nowak J. Adrenal hypo-plasia congenita - an uncommon reason of primary adrenal in-sufficiency. Ann Endocrinol (Paris). 2010;71(4):309–13.10.       Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW, et al. Consensus statement on 21-hydroxylase defi-ciency from the European Society for Paediatric Endocrinology and the Lawson Wilkins Pediatric Endocrine Society. Horm Res. 2002;58(4):188–95.

Adrenal insufficiency as a cause of loss of consciousness: A case study

http://eprints.iums.ac.ir/11109/1/ADRENAL%20INSUFFICIENCY%20AS%20A%20CAUSE%20OF%20LOSS%20OF%20CONSCIOUSNESS%20A%20CASE%20STUDY.pdf

Adrenal insufficiency as a cause of loss of consciousness: A case study

Abstract

Similar works

Full text

Available Versions

eprints Iran University of Medical Sciences