Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features
-
Ikaro Soares Santos Breder
,
Heraldo Mendes Garmes
Abstract
Background:
Deficiency of 17α-hydroxylase (17OHD) is a rare form of adrenal hyperplasia. Diagnosis is generally delayed, impairing appropriate treatment.
Case presentation:
Here, we report the clinical, molecular, hormonal, and treatment data of three unrelated 17OHD patients, aged 14–16 years with hypergonadotrophic hypogonadism; uncontrolled hypertension; primary adrenal insufficiency; and high progesterone, low to normal potassium, and low dehydroepiandrosterone, androstenedione, and testosterone levels. Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) at baseline and after an adrenocorticotropic hormone test showed low cortisol and cortisone and high deoxycorticosterone (DOC) and corticosterone levels; both DOC/21-deoxycortisol and costicosterone/cortisol ratios were very high. Patient 2 had 46,XX karyotype and patients 1 and 3, had 46,XY. A molecular analysis showed that two of the patients were homozygous for p.W406R mutation and the other patient was compound heterozygous for p.W406R and p.P428L. Hypertension was controlled only after the administration of both prednisone and mineralocorticoid antagonist.
Conclusions:
Hypertension in young women must lead to diagnostic suspicion, even in the pre-pubertal period. The basal level of progesterone is an indicator of 17OHD. Mineral and glucocorticoid ratios obtained from LC-MS/MS can reinforce the diagnosis. Hypertension can be controlled using glucocorticoid replacement therapy and mineralocorticoid antagonist.
Acknowledgments
We thank the Fleury Medicine and Health Laboratory in São Paulo, Brazil, for the hormonal profile analysis by LC-MS/MS.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This research was supported by a grant from the National Council for Scientific and Technological Development, Funder Id: 10.13039/501100003593 (CNPq – Process number 302870/2013-0 obtained by GG-J).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Original Articles
- Urinary bisphenol-A levels in children with type 1 diabetes mellitus
- The relationship between metabolic syndrome, cytokines and physical activity in obese youth with and without Prader-Willi syndrome
- Association of anthropometric measures and cardio-metabolic risk factors in normal-weight children and adolescents: the CASPIAN-V study
- The effect of obesity and insulin resistance on macular choroidal thickness in a pediatric population as assessed by enhanced depth imaging optical coherence tomography
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation
- Long-term thyroid disorders in pediatric survivors of hematopoietic stem cell transplantation after chemotherapy-only conditioning
- Screening for autoimmune thyroiditis and celiac disease in minority children with type 1 diabetes
- Resistance exercise alone improves muscle strength in growth hormone deficient males in the transition phase
- Sequential measurements of IGF-I serum concentrations in adolescents with Laron syndrome treated with recombinant human IGF-I (rhIGF-I)
- Symptomatic Rathke cleft cyst in paediatric patients – clinical presentations, surgical treatment and postoperative outcomes – an analysis of 38 cases
- Molecular genetics of tetrahydrobiopterin deficiency in Chinese patients
- Single center experience of biotinidase deficiency: 259 patients and six novel mutations
- Next-generation sequencing as a second-tier diagnostic test for newborn screening
- Case Reports
- Thyroid storm after choking
- Three new Brazilian cases of 17α-hydroxylase deficiency: clinical, molecular, hormonal, and treatment features
- Diazoxide toxicity in a child with persistent hyperinsulinemic hypoglycemia of infancy: mixed hyperglycemic hyperosmolar coma and ketoacidosis
- Refractory hypoglycemia in a pediatric patient with desmoplastic small round cell tumor
