Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Goyal, Alpesh; Boro, Hiya; Khadgawat, Rajesh

doi:10.7759/cureus.5248

Cited by 6 publications

(9 citation statements)

References 14 publications

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“…Hypokalemia as a result of accumulation of DOC and other steroid precursors is found in a minority of patients with 11βOHD and is not correlated to blood pressure. Similar to the reported patients, hypokalemia in patient 4 resolved with glucocorticoid replacement (19). Adrenal tumor in patient 4 may be caused by chronic ACTH elevation.…”

Section: Discussionsupporting

confidence: 86%

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Zhou

Wang

et al. 2020

Front. Pediatr.

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Objective: 11β-hydroxylase deficiency (11βOHD) is a rare autosomal recessive disorder caused by mutations in the CYP11B1 gene. It is characterized by virilization, hypertension, and significant final height impairment. In this study, we aim to investigate the clinical and molecular characteristics of four unrelated Chinese patients with 11βOHD disorder. Methods: The clinical information of four 11βOHD patients were carefully reviewed. Genetic analysis was performed using next-generation sequencing (NGS) based panel analysis. NGS coverage depth was analyzed to detect exonic copy-number variants (CNVs) on patient 1. Quantitative PCR (qPCR) was subsequently performed to confirm the CNVs detected from the NGS coverage depth analysis. Results: The mean age of the patients at diagnosis was 4.7 years (range, 2.0-9.3 years). Two genetically female patients (patients 1 and 2) with 11βOHD presented severe virilization of external genitalia and were raised as males. Two genetically male patients (patients 3 and 4) presented precocious puberty. Additionally, patients 1, 3, and 4 presented with hypertension. In patient 4, unilateral adrenal mass was detected and removed at the age of 9 years. Interestingly, the height of patient 4 (174.4 cm, +6.7 SD) wasn't impaired and reached his mid-parental height (173 cm). Three novel variants in the CYP11B1 gene (c.1150_1153del, c.217C>T, and c.400G>C) were identified by NGS. Various bioinformatics tools revealed potential pathogenic effects for the novel variants, and evolutionary-conservation revealed that the novel missense variant affected an amino acid that is highly conserved among species. Furthermore, NGS coverage depth analysis and qPCR identified a novel heterozygous deletion of exons 1-6 in patient 1. Conclusion: Our study expands the spectrum of mutations of the CYP11B1 gene in Chinese population. In addition, We reported the first case of a patient with classical 11βOHD disorder, whose final height wasn't compromised.

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Section: Discussionsupporting

confidence: 86%

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Zhou

Wang

et al. 2020

Front. Pediatr.

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“… 93 Presentation in pre-pubertal children is occasionally due to complications related to hypertensive cardiomyopathy. 94 Reversibility of hypertension, and left ventricular hypertrophy has also been reported with steroid treatment in 11 beta hydroxylase deficiency. 94 …”

Section: Monogenic Causes Of Hypertension (Other Than Familial Hyperamentioning

confidence: 94%

“… 94 Reversibility of hypertension, and left ventricular hypertrophy has also been reported with steroid treatment in 11 beta hydroxylase deficiency. 94 …”

Section: Monogenic Causes Of Hypertension (Other Than Familial Hyperamentioning

confidence: 94%

Endocrine causes of heart failure: A clinical primer for cardiologists

Khatiwada

Boro

Farooqui³

et al. 2021

Indian Heart Journal

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Heart failure (HF) may be a presenting manifestation of a few endocrine disorders and should be considered in evaluation of heart failure causes. This clinically oriented review is an attempt to highlight the protean manifestations of heart failure in endocrine diseases which could present either as acute or chronic heart failure. Acute heart failure manifests as hypertensive crisis, Takotsubo syndrome, or as tachy/brady cardiomyopathies. Chronic heart failure could masquerade with features of hyperdynamic heart failure, or hypertrophic, restrictive or dilated cardiomyopathy. Rarely constrictive features or resistant heart failure could be the presenting feature. Isolated presentation as pulmonary hypertension and right heart failure are also documented. Good history-taking and physical examination with targeted investigations will help in the timely management for reversing the pathophysiology to a significant extent by appropriated management.

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“…The raised levels of 11-deoxycortisol, 11-deoxycorticosterone, and androgen are robust clues for the biochemical diagnosis of suspected 11β-OHD patients. Appropriate glucocorticoid supplementation is helpful in improving hypertension, hypokalemia and end-organ damage ( 43 ). Some patients with refractory hypertension or severe hyperandrogenism that is unresponsive to glucocorticoid therapy are recommended to undergo bilateral adrenalectomy.…”

Section: Genetics Of Monogenic Hypertensionmentioning

confidence: 99%

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

Fan

Zhang

et al. 2021

Front. Pediatr.

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Hypertension is an important risk factor in many conditions and creates a heavy burden of disease and mortality globally. Polygenic hypertension is the most common form; however, it is increasingly recognized that monogenic hypertension is not rare, especially in patients with electrolyte disorders. Single genetic alterations are associated with plasma volume expansion and catecholamines/sympathetic excess with simultaneously increased potassium excretion in the urine and potassium intracellular shift. Early-onset refractory hypertension and profound hypokalemia are characteristics of monogenic hypertension. However, accumulated evidence shows the existence of phenotypic heterogeneity in monogenic hypertension meaning that, even for mild symptoms, clinicians cannot easily exclude the possibility of monogenic hypertension. Genetic, epigenetic and non-genetic factors are all possible mechanisms influencing phenotypic diversity. Genetic sequencing is a precise and efficient method that can broaden the mutant gene spectrum of the disease and is very helpful for understanding the pathophysiology of monogenic hypertension. Genetic sequencing, along with biochemical tests and imaging modalities, is essential for the early diagnosis and targeted management of monogenic hypertension to avoid long-term catastrophic complications.

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Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Cited by 6 publications

References 14 publications

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency

Endocrine causes of heart failure: A clinical primer for cardiologists

Overview of Monogenic Forms of Hypertension Combined With Hypokalemia

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