scholarly journals Systemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child

2021 ◽  
Vol 2021 ◽  
Author(s):  
Asmahan Abdalla ◽  
Mohammed Abdulrahman Alhassan ◽  
Reem Tawfeeg ◽  
Ayman Sanad ◽  
Hasan Tawamie ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Respiratory Symptoms ◽  
Na Channel ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Laboratory Findings ◽  
Genetic Syndrome ◽  
First Case ◽  
Pseudohypoaldosteronism Type

Summary Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/infantile salt-losing crises that mimic congenital adrenal hyperplasia (CAH). Consistently, extra-renal manifestations, including respiratory symptoms that resemble cystic fibrosis, are well reported. Clinical diagnosis is made by the presence of hyponatremia, hyperkalemia, metabolic acidosis, respiratory symptoms, evidence of high renal and extra-renal salt loss in addition to high plasma renin and aldosterone levels. We herein report a novel manifestation of PHA1: episodic dyslipidemia in a 7-month-old Sudanese boy that occurred during the salt-losing crises. Whole exome sequencing of the patient revealed one homozygous missense variant c.1636G>A p.(Asp546Asn) in the SCNN1B gene, confirming our clinical and laboratory findings that were compatible with PHA1. This report aims to highlight the possible explanation of dyslipidemia in PHA1 and its expected consequences in the long term. Learning points A child presenting with features that mimic salt-losing congenital adrenal hyperplasia (CAH) crises that do not respond to glucocorticoid and mineralocorticoid therapy should alert the pediatricians to the possibility of end-organ resistance to aldosterone. Pseudohypoaldosteronism type 1 (PHA1) can be diagnosed even in the absence of advanced laboratory investigations. To our knowledge, this is the first case of systemic PHA1 to have a documented episodic dyslipidemia (primarily as marked hypertriglyceridemia).

scholarly journals Pseudohypoaldosteronism in a neonate presenting as life-threatening arrhythmia

2014 ◽  
Vol 2014 ◽  
Author(s):  
Sudeep K Rajpoot ◽  
Carlos Maggi ◽  
Amrit Bhangoo
Keyword(s):  
Critical Care Unit ◽  
Autosomal Dominant ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Life Threatening ◽  
Severe Hyperkalemia ◽  
Female Baby ◽  
Learning Points ◽  
Pseudohypoaldosteronism Type

Summary Neonatal hyperkalemia and hyponatremia are medical conditions that require an emergent diagnosis and treatment to avoid morbidity and mortality. Here, we describe the case of a 10-day-old female baby presenting with life-threatening hyperkalemia, hyponatremia, and metabolic acidosis diagnosed as autosomal dominant pseudohypoaldosteronism type 1 (PHA1). This report aims to recognize that PHA1 may present with a life-threatening arrhythmia due to severe hyperkalemia and describes the management of such cases in neonates. Learning points PHA1 may present with a life-threatening arrhythmia. Presentation of PHA can be confused with congenital adrenal hyperplasia. Timing and appropriate medical management in the critical care unit prevented fatality from severe neonatal PHA.

Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia

2015 ◽  
Vol 28 (5-6) ◽  
Author(s):  
Hale Unver Tuhan ◽  
Gonul Catli ◽  
Ahmet Anik ◽  
Huseyin Onay ◽  
Bumin Dundar ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Adrenocorticotropic Hormone ◽  
Cross Reactivity ◽  
Clinical Findings ◽  
Adrenal Hyperplasia ◽  
Salt Wasting ◽  
Subsequent Investigation ◽  
Glucocorticoid Deficiency ◽  
Pseudohypoaldosteronism Type

AbstractDuring the first weeks of life, salt-wasting crisis, hyperkalemia, acidosis, hypoglycemia, and shock are the main findings of congenital adrenal hyperplasia (CAH). Pseudohypoaldosteronism type 1 (PHA1) is a rare disease of mineralocorticoid resistance, which is characterized with high aldosterone levels, hyponatremia and hyperkalemia without clinical findings of glucocorticoid deficiency. Patients with PHA1 are often initially diagnosed with CAH; however, it is unusual that a CAH patient is misdiagnosed as PHA1. In this report, we describe two cases with severe salt-losing crisis, hyperkalemia, and mild acidosis, which were initially diagnosed with PHA1, due to the high aldosterone levels along with normal adrenocorticotropic hormone and cortisol levels. However, subsequent investigation and genetic analysis led to the diagnosis of CAH with a homozygous I2 splice mutation in both alleles of the

CHROMATOGRAPHY OF THE 17-KETOGENIC STEROIDS IN THE DIAGNOSIS AND CONTROL OF CONGENITAL ADRENAL HYPERPLASIA

1960 ◽  
Vol XXXIII (II) ◽  
pp. 230-250 ◽  
Author(s):  
Eileen E. Hill
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Normal Children ◽  
Paediatric Practice ◽  
The Mean ◽  
Cortisone Therapy ◽  
And Control ◽  
Clinical Problems ◽  
Stimulation Of

ABSTRACT A method for the fractionation of the urinary 17-ketogenic steroids with no oxygen grouping at C11 and those oxygenated at C11, is applied to the clinical problems of congenital adrenal hyperplasia. In normal children the mean ratio of the non-oxygenated to oxygenated steroids is 0.24. In childrern with congenital adrenal hyperplasia the ratio is 2.3. The reason for this difference in ratio is discussed. The changes in ratio found under stimulation of the adrenal gland with exogenous or endogenous corticotrophin and the suppression with cortisone therapy are studied. This test can be applied to isolated samples of urine, a major advantage in paediatric practice, and can be carried out in routine laboratories. It is found to be reliable in the diagnosis and sensitive in the control of congenital adrenal hyperplasia.

scholarly journals Giant myelolipomas and inadvertent bilateral adrenalectomy in classic congenital adrenal hyperplasia

2015 ◽  
Vol 2015 ◽  
Author(s):  
Geetanjali Kale ◽  
Elaine M Pelley ◽  
Dawn Belt Davis
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Treatment Option ◽  
Chronic Back Pain ◽  
Ct Imaging ◽  
Bilateral Adrenalectomy ◽  
List Type ◽  
Low Density ◽  
Adrenal Hyperplasia ◽  
Alternative Treatment Option ◽  
Patient Reported

Summary Myelolipomas have been reported in patients with congenital adrenal hyperplasia (CAH). ACTH excess, as seen with non-adherence to glucocorticoid therapy, may be responsible for tumor development. We report a case of a 51-year-old man with classic salt-wasting CAH managed on prednisone 7.5 mg daily and fludrocortisone who presented with chronic back pain and was found to have giant bilateral retroperitoneal masses. On computed tomography (CT) imaging, the masses were heterogeneous, but contained predominantly low-density fat attenuation. The tumors were resected due to concern for malignancy and mass symptoms. Pathologic examination identified both retroperitoneal masses as myelolipomas. The left tumor was 34×20×13 cm and weighed 4.7 kg and the right tumor was 20 cm in the largest dimension. Adrenal tissue was present in the specimen. The patient reported long-term compliance with glucocorticoid treatment. However, no biochemical monitoring of ACTH levels had occurred. Therefore, it is unclear if ACTH excess contributed to the development of these large tumors in this patient. It was presumed that both adrenal glands were inadvertently removed during surgery and the patient was treated with physiologic replacement doses of hydrocortisone and fludrocortisone postoperatively. In this case, the bilateral adrenalectomy was inadvertent. However, adrenalectomy can be considered as a treatment option in patients with classical CAH under certain circumstances to avoid complications of glucocorticoid excess. Learning points Myelolipomas should be considered in the differential diagnosis of adrenal or retroperitoneal masses in patients with CAH. On CT imaging, myelolipomas are seen as heterogeneous masses with low-density mature fat interspersed with more dense myeloid tissue. Myelolipomas are usually unilateral and measure <4 cm; however, very large and bilateral tumors have been reported. Treatment of CAH typically involves using supraphysiologic doses of glucocorticoid to suppress adrenal hyperandrogenism. Bilateral adrenalectomy is an alternative treatment option in patients with CAH. There is an association between ACTH excess and increased incidence of adrenal myelolipoma but the direct causal link remains to be established.

scholarly journals Giant bilateral adrenal lipoma in a patient with congenital adrenal hyperplasia

2021 ◽  
Vol 2021 ◽  
Author(s):  
Tina Kienitz ◽  
Jörg Schwander ◽  
Ulrich Bogner ◽  
Michael Schwabe ◽  
Thomas Steinmüller ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Abdominal Mass ◽  
Clinical Signs ◽  
Adrenal Tumors ◽  
List Type ◽  
Adrenal Hyperplasia ◽  
Endocrine Society ◽  
Adrenal Imaging ◽  
Open Laparotomy ◽  
The Right

Summary Apart from adrenal myelolipomas, adrenal lipomatous tumors are rare and only seldom described in the literature. We present the case of a 50-year-old man, with a classical form of congenital adrenal hyperplasia (CAH), which was well treated with prednisolone and fludrocortisone. The patient presented with pollakisuria and shortness of breath while bending over. On MRI, fat-equivalent masses were found in the abdomen (14 × 19 × 11 cm on the right side and 10 × 11 × 6 cm on the left side). The right adrenal mass was resected during open laparotomy and the pathohistological examination revealed the diagnosis of an adrenal lipoma. Symptoms were subdued totally postoperatively. This is the first report of a bilateral adrenal lipoma in a patient with CAH that we are aware of. Learning points Macronodular hyperplasia is common in patients with congenital adrenal hyperplasia (CAH). Solitary adrenal tumors appear in approximately 10% of adult CAH patients and are often benign myelolipomas. The Endocrine Society Clinical Practice Guideline does not recommend routine adrenal imaging in adult CAH patients. Adrenal imaging should be performed in CAH patients with clinical signs for an adrenal or abdominal mass. Adrenal lipoma is rare and histopathological examinations should rule out a differentiated liposarcoma.

First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy

2007 ◽  
Vol 40 (18) ◽  
pp. 1435-1436
Author(s):  
Paola Concolino ◽  
Salvatore Corsello ◽  
Cinzia Carrozza ◽  
Angelo Minucci ◽  
Concetta Santonocito ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Adrenal Hyperplasia ◽  
South Italy ◽  
First Case

scholarly journals Case Report: Late-Onset Congenital Adrenal Hyperplasia and Acute Covid-19 Infection in a Pregnant Woman: Multidisciplinary Management

2021 ◽  
Vol 11 ◽  
Author(s):  
Claudia Giavoli ◽  
Enrico Iurlaro ◽  
Valentina Morelli ◽  
Giulia Rodari ◽  
Andrea Ronchi ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Pregnant Woman ◽  
Congenital Adrenal Hyperplasia ◽  
Steroid Therapy ◽  
Acute Infection ◽  
Good Condition ◽  
Oral Steroid ◽  
Adrenal Hyperplasia ◽  
First Case ◽  
The Impact

BackgroundThe impact of the Covid-19 infection on patients with chronic endocrine disease is not fully known. We describe here the first case of a pregnant woman with Covid-19 acute infection and non-classical congenital adrenal hyperplasia (NCAH).Case descriptionA woman at 36 weeks of gestation was referred to our Maternity Hospital for premature rupture of membranes (PROM). Her medical history was positive for NCAH on chronic steroid replacement till the age of 17 years (cortisone acetate and dexamethasone, both in the morning). At admission, her naso-oro-pharyngeal swab resulted positive for SARS-CoV-2. Due to hyperpyrexia and late preterm PROM, cesarean section was planned, and she was started on a 100 mg-bolus of hydrocortisone, followed by continuous infusion of 200 mg/24 h. A female neonate in good clinical condition and with a negative nasopharyngeal Covid-19 swab was delivered. On second postpartum day, the mother was in good condition and was switched to oral steroid therapy. On third postpartum day she worsened, with radiological signs of acute pulmonary embolism. Oro-tracheal intubation and mechanical ventilation were started, and she was switched back to intravenous steroid therapy. On April 30, pulmonary embolism was resolved, and on May 13th she was discharged in good condition.ConclusionsWe report the first case of Covid-19 acute infection that occurred in late-pregnancy in a woman with NCAH on chronic steroid replacement. The management of the patient in a reference center with early involvement of a multidisciplinary team granted prompt care and adequate protection for all the involved sanitary operators.

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