scholarly journals Congenital Adrenal Hyperplasia (CAH) and Gitelman Syndrome (GS): Overlapping Symptoms in an Uncommon Association

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
Valeria Calcaterra ◽  
Giulia Roberto ◽  
Anna La Rocca ◽  
Beatrice Andrenacci ◽  
Federico Rossi ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Gitelman Syndrome ◽  
Blood Levels ◽  
Adrenal Hyperplasia ◽  
Case Presentation ◽  
Salt Wasting ◽  
Life Saving ◽  
Neonatal Diagnosis ◽  
Natural Tendency ◽  
Recessive Transmission

Background. Classical salt-wasting (SW) congenital adrenal hyperplasia (CAH) and Gitelman syndrome (GS) are two genetic conditions in which dyselectrolytemia may occur. No association between the two conditions has been previously described. Case Presentation. We present the case of a boy with a neonatal diagnosis of SW-CAH who showed low potassium blood levels from the age of 15 years. This electrolytic alteration was, at first, attributed to an excessive action of mineralocorticoid drugs. Due to persistence of hypokalemia, SLC12A3 whole genome sequencing was performed, showing a heterozygous C to T base pair substitution at position 965 in gene SLC12A3. This mutation is related to Gitelman syndrome with autosomal recessive transmission. Conclusions. SW-CAH and GS determine opposite values of potassium in the absence of specific therapy, with a natural tendency to compensate each other. The symptom overlap makes diagnosis difficult. Organic causes of hypokalemia in patients undergoing life-saving therapy should not be excluded.

scholarly journals Graves’ Thyrotoxicosis Leading to Adrenal Decompensation and Hyperandrogenemia in a Pediatric Patient with Salt-Wasting Congenital Adrenal Hyperplasia

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Meghan E. Fredette ◽  
Lisa Swartz Topor
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Crisis ◽  
Adrenal Hyperplasia ◽  
Free T4 ◽  
Adrenal Androgens ◽  
Case Presentation ◽  
Adrenal Hormones ◽  
Salt Wasting ◽  
Glucocorticoid Deficiency ◽  
Stress Dose

Introduction. Thyroid hormone is known to accelerate glucocorticoid turnover. In a thyrotoxic state, individuals with adrenal insufficiency are unable to increase endogenous cortisol production to compensate for increased turnover, placing them at risk for symptoms of glucocorticoid deficiency and adrenal crisis. In patients with salt-wasting congenital adrenal hyperplasia (SW-CAH), hyperandrogenemia is a measurable reflection of relative glucocorticoid insufficiency. Case Presentation. A 12-year-old girl with SW-CAH reported 3 recent episodes of vomiting without diarrhea, and accompanying tachycardia, responsive to stress dose steroids. In the previous 9 months, she unintentionally lost 2.6 kg. She had tachycardia and new thyromegaly. Labs showed suppressed TSH, elevated free T4 and total T3, and elevated thyroid stimulating immunoglobulin (TSI) consistent with Graves’ disease. Adrenal androgens were markedly elevated. Maintenance hydrocortisone dose was 25 mg/m2/day and was not changed. Methimazole was initiated. Four weeks later, free T4 and adrenal androgens normalized. She had no further vomiting episodes. Conclusions. Thyrotoxicosis must be included in the differential diagnosis of individuals with SW-CAH who present with episodes concerning for adrenal crises, escalating hydrocortisone requirements, and/or inadequate suppression of adrenal hormones.

scholarly journals Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Heves Kırmızıbekmez ◽  
Rahime Gül Yesiltepe Mutlu ◽  
Serdar Moralıoğlu ◽  
Ahmet Tellioğlu ◽  
Ayşenur Cerrah Celayir
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Growth Retardation ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Significant Regression ◽  
One Year ◽  
The One ◽  
21 Hydroxylase Deficiency

Congenital adrenal hyperplasia (CAH) is a group of inherited defects of cortisol biosynthesis. A case of classical CAH due to 21-hydroxylase deficiency (21-OHD) with early onset of salt waste and concurrence of meningomyelocele (MMC) was presented here. The management of salt-wasting crisis which is complicated by a postrenal dysfunction due to neurogenic bladder was described. Possible reasons of growth retardation in the one-year follow-up period were discussed. A significant regression of the phallus with proper medical treatment was also mentioned.

Aldosterone Synthesis in Salt-Wasting Congenital Adrenal Hyperplasia with Complete Absence of Adrenal 21-Hydroxylase

1991 ◽  
Vol 324 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Phyllis W. Speiser ◽  
Levon Agdere ◽  
Hajime Ueshiba ◽  
Perrin C. White ◽  
Maria I. New
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
Salt Wasting

scholarly journals The role of imaging in congenital adrenal hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 701-708 ◽  
Author(s):  
Sara Reis Teixeira ◽  
Paula Condé Lamparelli Elias ◽  
Marco Túlio Soares Andrade ◽  
Andrea Farias Melo ◽  
Jorge Elias Junior
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenal Tumors ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Testicular Adrenal Rest Tumors ◽  
High Incidence ◽  
Adrenal Rest ◽  
Hormonal Evaluation

Congenital adrenal hyperplasia (CAH) is an autossomic recessive disorder caused by impaired steroidogenesis. Patients with CAH may present adrenal insufficiency with or without salt-wasting, as well as various degrees of virilization and fertility impairment, carrying a high incidence of testicular adrenal rest tumors and increased incidence of adrenal tumors. The diagnosis of CAH is made based on the adrenocortical profile hormonal evaluation and genotyping, in selected cases. Follow-up is mainly based on hormonal and clinical evaluation. Utility of imaging in this clinical setting may be helpful for the diagnosis, management, and follow-up of the patients, although recommendations according to most guidelines are weak when present. Thus, the authors aimed to conduct a narrative synthesis of how imaging can help in the management of patients with CAH, especially focused on genitography, ultrasonography, computed tomography, and magnetic resonance imaging.

scholarly journals High Reliability of Neonatal Screening for Congenital Adrenal Hyperplasia in Switzerland

2002 ◽  
Vol 87 (9) ◽  
pp. 4106-4110 ◽  
Author(s):  
Michael Steigert ◽  
Eugen J. Schoenle ◽  
Anna Biason-Lauber ◽  
Toni Torresani
Keyword(s):  
Positive Predictive Value ◽  
Congenital Adrenal Hyperplasia ◽  
Predictive Value ◽  
Neonatal Screening ◽  
Screening Program ◽  
High Reliability ◽  
Dried Blood Spots ◽  
Recall Rate ◽  
Adrenal Hyperplasia ◽  
Salt Wasting

Newborn screening for congenital adrenal hyperplasia (CAH) is justified by the sometimes difficult clinical diagnosis and the risks associated with missed diagnosis, particularly the life-threatening salt-wasting crisis. In Switzerland, nationwide screening for CAH by measuring 17-hydroxyprogesterone levels in dried blood spots was introduced in 1992. At the Zurich University Children’s Hospital, 50% of the population of Switzerland is screened. The aim of the study was to evaluate the efficiency of the Zurich screening program. Between January 1, 1993, and May 31, 2001, 333,221 newborns were screened for CAH. Thirty-one newborns had CAH (incidence, 1 in 10,749); 30 were detected through screening (sensitivity, 97%). A recall for suspected CAH was performed in only 60 cases, corresponding to a very low recall rate (0.0018%). In 30 recalls CAH was confirmed (positive predictive value, 50%; specificity, 99.99%). Fifteen of 31 patients profited from screening, as CAH had not been recognized clinically. The timely availability of screening results made therapy possible within the first week of life in most cases and helped in preventing salt-wasting crisis in all patients. With a sensitivity of 97%, a specificity of 99.99%, and a positive predictive value of 50%, the Zurich neonatal screening program for CAH can be considered highly reliable.

Bilateral ovarian cysts in a neonate with salt-wasting congenital adrenal hyperplasia

2010 ◽  
Vol 45 (5) ◽  
pp. e19-e21 ◽  
Author(s):  
Raghu Shankar ◽  
Jai Kumar Mahajan ◽  
Sanat Khanna ◽  
Katragadda L. Rao
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Ovarian Cysts ◽  
Adrenal Hyperplasia ◽  
Salt Wasting

scholarly journals Ten-year evaluation of a Neonatal Screening Program for Congenital Adrenal Hyperplasia

2014 ◽  
Vol 58 (7) ◽  
pp. 765-771 ◽  
Author(s):  
Marilza Leal Nascimento ◽  
Anísia Nhelety Baptista Cristiano ◽  
Tatiane de Campos ◽  
Masanao Ohira ◽  
Edson Cechinel ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Neonatal Screening ◽  
Screening Program ◽  
Clinical Manifestations ◽  
The State ◽  
Adrenal Hyperplasia ◽  
Santa Catarina ◽  
Salt Wasting ◽  
Neonatal Screening Program ◽  
Treatment Onset

Objective Evaluate the Neonatal Screening Program (NSP) for congenital adrenal hyperplasia (CAH) of the Department of Health of the State of Santa Catarina (Secretaria de Estado da Saúde de Santa Catarina, SES/SC), and provide information to improve the program. Subjects and methods Descriptive, retrospective study of 748,395 children screened between January 2001 and December 2010. We analyzed the coverage of the NSP-SES/SC prevalence of CAH, child’s age when the first sample for 17-hydroxyprogesterone (17OHP) measurement was collected, levels of 17OHP, mean age at treatment onset and main clinical manifestations. Results The NSP-SES/SC covered 89% of the live newborns in the State. It diagnosed 50 cases of CAH, yielding an incidence of 1:14,967. Mean age at collection of the first sample was 7.3 days and mean level of 17OHP was 152.9 ng/mL. The most frequent manifestations were virilized genitalia with nonpalpable gonads, clitoromegaly and genital hyperpigmentation. In three girls, the genre established at birth was incorrect. The salt-wasting form was present in 74% of the cases. There was no occurrence of shock or death. Mean age at treatment onset in the salt-wasting form was 17.4 days compared with 54.9 days in those without the salt-wasting form of the disease. All children were treated with hydrocortisone, and those with salt-wasting CAH were also treated with fludrocortisone. Conclusions The incidence of CAH was 1 case to 14,967 live newborns. Collection of the first sample occurred outside the recommended time, resulting in delays in treatment onset.

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