scholarly journals Diagnosis of Hypoaldosteronism in Infancy

2021 ◽  
Author(s):  
Elpis-Athina Vlachopapadopoulou ◽  
Myrto Bonataki
Keyword(s):  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Steroid Treatment ◽  
Adrenal Failure ◽  
Initial Management ◽  
Salt Wasting ◽  
Aldosterone Production ◽  
Adrenal Hypoplasia ◽  
Aldosterone Synthase Deficiency ◽  
Secondary Causes

Hypoaldosteronism is associated with either insufficient aldosterone production or lack of responsiveness to aldosterone and can be isolated or in the context of primary adrenal failure. Τhe severity of clinical manifestations is inversely correlated to age, with the neonatal period being the most vulnerable time for a patient to present with mineralocorticoid insufficiency. Salt-wasting forms of congenital adrenal hyperplasia (CAH), adrenal hypoplasia congenita (AHC), aldosterone synthase deficiency (ASD) and pseudohypoaldosteronism (PHA) are all causes of hypoaldosteronism in infancy. Affected infants present with salt wasting, failure to thrive and potentially fatal hyperkalemia and shock. Α blood sample for the essential hormonal investigations should be collected before any steroid treatment is given, in order to confirm aldosterone insufficiency and to determine the underlying cause. Renal ultrasonography and urine culture are also useful for exclusion of secondary causes of aldosterone resistance. Initial management requires treatment of electrolyte imbalances and restoration of intravascular fluid volume. In case of a salt-wasting crisis, affected infants are usually treated initially with both hydrocortisone and fludrocortisone, pending the results of investigations. Interpretation of the hormonal profile will guide further therapy and molecular analysis of candidate genes.

Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency

2020 ◽  
Vol 106 (1) ◽  
pp. e182-e191
Author(s):  
Christina Merakou ◽  
Irene Fylaktou ◽  
Amalia Sertedaki ◽  
Maria Dracopoulou ◽  
Antonis Voutetakis ◽  
...  
Keyword(s):  
Gene Sequencing ◽  
Failure To Thrive ◽  
In Silico Analysis ◽  
Autosomal Recessive Disorder ◽  
Molecular Study ◽  
Aldosterone Synthase ◽  
Salt Wasting ◽  
Pathogenic Variants ◽  
Novel Variants ◽  
Aldosterone Synthase Deficiency

Abstract Context Isolated congenital hypoaldosteronism presents in early infancy with symptoms including vomiting, severe dehydration, salt wasting, and failure to thrive. The main causes of this rare autosomal recessive disorder is pathogenic variants of the CYP11B2 gene leading to aldosterone synthase deficiency. Objective To investigate the presence of CYP11B2 pathogenic variants in a cohort of patients with a clinical, biochemical, and hormonal profile suggestive of aldosterone synthase deficiency. Design Clinical and molecular study. Setting Tertiary academic Children’s Hospital, Center for Rare Pediatric Endocrine Diseases. Patients and Methods Sixty-two patients (56 unrelated patients and 6 siblings), with hypoaldosteronism and their parents, underwent CYP11B2 gene sequencing after its selective amplification against the highly homologous CYP11B1 gene. In silico analysis of the identified novel variants was carried out to evaluate protein stability and potential pathogenicity. Results CYP11B2 gene sequencing revealed that 62 patients carried a total of 12 different pathogenic CYP11B2 gene variants, 6 of which are novel. Importantly, 96% of the 56 patients carried the previously reported p.T185I variant either in homozygosity or in compound heterozygosity with another variant. The 6 novel variants detected were: p.M1I, p.V129M, p.R141Q, p.A165T, p.R448C, and the donor splice site variant of intron 8, c.1398 + 1G > A. Conclusion Molecular diagnosis was achieved in 62 patients with aldosterone synthase deficiency, the largest cohort thus far reported. Six novel genetic variants were identified as possibly pathogenic, extending the spectrum of reported molecular defects of the CYP11B2 gene.

scholarly journals Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Jennifer L. Flint ◽  
Jill D. Jacobson
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Failure To Thrive ◽  
Zona Glomerulosa ◽  
Normal Male ◽  
Adrenal Hyperplasia ◽  
Acth Stimulation ◽  
Hydroxylase Deficiency ◽  
Salt Wasting ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.

scholarly journals Problem-based review: The Patient with Acute Adrenal Failure

2013 ◽  
Vol 12 (1) ◽  
pp. 38-43
Author(s):  
Angela Rogers ◽  
◽  
Toby Pillinger ◽  
John A H Wass ◽  
◽  
...  
Keyword(s):  
Steroid Treatment ◽  
Adrenal Crisis ◽  
Adrenal Failure ◽  
Important Condition ◽  
Initial Management ◽  
Medical Unit ◽  
Acute Medical Unit ◽  
Acute Adrenal Failure ◽  
Key Aspects

Acute adrenal crisis is an important condition to consider in any shocked patient presenting to the acute medical unit. This article aims to highlight the key aspects of initial management, focussing on the importance of rapid recognition and prompt initiation of steroid treatment.

Nutritional B12 Deficiency in Infants of Vitamin B12-Deficient Mothers

2011 ◽  
Vol 81 (5) ◽  
pp. 328-334 ◽  
Author(s):  
Oya Halicioglu ◽  
Sezin Asik Akman ◽  
Sumer Sutcuoglu ◽  
Berna Atabay ◽  
Meral Turker ◽  
...  
Keyword(s):  
Megaloblastic Anemia ◽  
Maternal Diet ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Failure To Thrive ◽  
Clinical Findings ◽  
Vitamin B ◽  
Animal Products ◽  
Hematological Evaluation ◽  
Nutritional Vitamin

Aim: Nutritional vitamin B12 deficiency in infants may occur because the maternal diet contains inadequate animal products. Clinical presentations of the infants who had nutritional vitamin B12 deficiency were analyzed in this study. Subjects and Methods: Patients with nutritional vitamin B12 deficiency were enrolled in the study between 2003 and 2010. The diagnosis was based on a nutritional history of mothers and infants, clinical findings, hematological evaluation, and low level of serum vitamin B12. Results: Thirty children aged 1 - 21 months constituted the study group. Poverty was the main cause of inadequate consumption of animal products of the mothers. All infants had predominantly breastfed. The most common symptoms were developmental delay, paleness, apathy, lethargy, anorexia, and failure to thrive. Hematological findings were megaloblastic anemia (83.3 %), thrombocytopenia (30 %), and severe anemia (13.3 %). All of the mothers had low serum B12 levels; eight of them had megaloblastic anemia. Conclusion: The unusual clinical manifestations of vitamin B12 deficiency may also be seen apart from neurological and hematological findings. Nutritional vitamin B12 deficiency due to maternal deficiency might be a serious health problem in infants. Therefore, screening and supplementation of pregnant and lactating women to prevent infantile vitamin B12 deficiency should be considered.

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 Dual threat of comorbidity of celiac disease and systemic lupus erythematosus

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110122
Author(s):  
Yimin Ma ◽  
Duanming Zhuang ◽  
Zhenguo Qiao
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Celiac Disease ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Severe Malnutrition ◽  
Systemic Lupus ◽  
Electrolyte Disorders ◽  
Diagnostic Challenge ◽  
Immune Mediated

Celiac disease (CD) is a chronic immune-mediated intestinal disease that is characterized by production of autoantibodies directed against the small intestine. The main clinical manifestations of CD are typically defined as those related to indigestion and malabsorption. These manifestations include unexplained diarrhea or constipation, abdominal pain, bloating, weight loss, anemia, failure-to-thrive in children, and decreased bone density. Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by heterogeneous clinical manifestations, which may also involve the gastrointestinal tract. Comorbidity of CD and SLE is rare, and the overlapping symptoms and nonspecific clinical presentation may pose a diagnostic challenge to clinicians. We report here a case of SLE with CD, which mainly manifested as recurrent diarrhea, uncorrectable electrolyte disorders, and severe malnutrition. Through review, we hope to further improve our understanding and diagnostic level of this combination of diseases.

Clinical Characteristics and Genetic Analysis of Interstitial Lung Disease in Chinese Children (Genes and Interstitial Lung Disease)

2021 ◽  
Author(s):  
Mei-Xia Huang ◽  
Lu Qin ◽  
Fei-Zhou Zhang ◽  
Lei Wu ◽  
Jia-Hui Yu ◽  
...  
Keyword(s):  
Interstitial Lung Disease ◽  
Lung Disease ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Surfactant Protein ◽  
Chinese Children ◽  
Common Mutation ◽  
Onset Age ◽  
Surfactant Dysfunction

Abstract BackgroundMutation in the surfactant protein C gene (SFTPC) is a cause of interstitial lung disease (ILD). Our objective was to investigate the clinical characteristics, outcome and influencing factors of ILD in Chinese children with SFTPC mutations.MethodA total of 8 Chinese children with ILD heterozygous for SFTPC mutations that were treated in our hospital from January 2014 to December 2020 were included in our study. Candidate genes responsible for surfactant dysfunction were sequenced by next-generation sequencing. The clinical and genetic data were reviewed retrospectively.ResultsThe children’s onset age was before the age of 2 years, and one case was just after birth. The most significant clinical manifestations were cough, tachypnea, hypoxemia and failure to thrive. The most common mutation was p. lle73Thr, which accounted for 87.5% (7/8) of our patients. Four patients whose onset was within 3 months, including 3 children with CMV infection, died. Conclusionp. lle73Thr mutation of SFTPC was an important and common cause of ILD in the Chinese children. The clinical manifestations of ILD associated with this mutation are not specific. The severity and outcome of the disease may be affected by factors such as onset age and viral infection.

Adrenal Hypertension

2017 ◽  
Author(s):  
Naomi D.L. Fisher ◽  
Gail K Adler
Keyword(s):  
Myocardial Infarction ◽  
Adrenal Glands ◽  
Cushing Syndrome ◽  
Rare Tumor ◽  
Cushing Disease ◽  
Increased Risk ◽  
Aldosterone Production ◽  
Artery Disease ◽  
Secondary Causes ◽  
Adrenal Hypertension

The secondary causes of hypertension are associated with the excess of the principal hormones produced by the adrenal glands: cortisol, epinephrine, and aldosterone. Excess aldosterone production is recognized as primary hyperaldosteronism, or primary aldosteronism (PA). Individuals with PA are at increased risk for a variety of disorders, including atrial fibrillation, coronary artery disease, myocardial infarction, and stroke. Pheochromocytoma is a very rare tumor (accounting for fewer than one in 10,000 hypertension cases) and is marked by high secretions of catecholamines, mostly epinephrine as well as norepinephrine. Cushing disease and Cushing syndrome are addressed in a separate review. This review contains 5 highly rendered figures, 4 tables, and 39 references.

scholarly journals A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2012 ◽  
Vol 56 (8) ◽  
pp. 496-500 ◽  
Author(s):  
Claudilene Battistin ◽  
Hamilton Cabral de Menezes Filho ◽  
Sorahia Domenice ◽  
Mirian Yumie Nishi ◽  
Thais Della Manna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Failure To Thrive ◽  
The Novel ◽  
Site Analysis ◽  
Adrenal Hypoplasia Congenita ◽  
Normal Individuals ◽  
Exon 1 ◽  
Adrenal Hypoplasia ◽  
Low Levels

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500

scholarly journals To study the rate of HIV Sero-positivity in paediatric patients with high risk clinical profile

2018 ◽  
Vol 6 (7) ◽  
pp. 2318
Author(s):  
Tarsem Singh ◽  
Navreet Kaur Natt ◽  
Sneh Prabha Goel
Keyword(s):  
Risk Factors ◽  
High Risk ◽  
Clinical Manifestations ◽  
Failure To Thrive ◽  
Clinical Profile ◽  
Pediatric Hiv ◽  
Hiv Positive ◽  
Chronic Diarrhoea ◽  
Hiv Seropositivity ◽  
Clinical Risk

Background: Understanding the magnitude and clinical profile of pediatric HIV is essential for the clinicians and policy makers. The study was aimed to determine the rate of HIV seropositivity in pediatric patients with high risk clinical profile, study the clinical presentations and the mode of transmission of HIV in children.Methods: This prospective hospital-based study to screen 244 children aged 18 months to 12 years with high risk clinical profile for HIV seropositivity was carried out for a period of 1 year.Results: Of the 244 children screened, the commonest clinical features associated with high risk profile were failure to thrive in 200 (81.97%), persistent fever in 151 (61.89%), chronic diarrhoea in 76 (31.15%), cough >1month 112 (45.90%) patients. HIV seropositivity was reported in 11/244 (4.51%) patients; with failure to thrive in 10/11 (90.90%), chronic diarrhoea in 09/11 (81.81%), seborrheic dermatitis in 2/11 (18.18%) patients followed by persistent cough, severe malnutrition, oral thrush, generalized lymphadenopathy and recurrent bacterial skin infections in 1 patient each out of 11(9.09%). Chronic diarrhoea was a significant independent clinical risk factor for predicting HIV seropositivity (Chi2 = 13.81, p<0.001, Odds ratio=11.15). The probability of HIV seropositivity increased significantly with the number of risk factors concomitantly present, with 30% seropositivity in those with four clinical risk factors (Chi2 =32.89, D. F=1, P<0.001). The parents of all seropositive children were seropositive.Conclusions: The probability of HIV infection in a child depends upon the nature and number of clinical manifestations present. All HIV positive children h HIV positive parents in this study indicating vertical transmission.

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