Hiperplasia supra-renal congênita por deficiência de 11-ß-hidroxilase

Júnior, Ramires Tosatti; Souza, Haroldo Silva de; Tosatti, Alexandre

doi:10.1590/s0066-782x2005001900008

Cited by 10 publications

(1 citation statement)

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“…Pelvic imaging revealed presence of Müllerian structures in our case. Unlike the external genitalia, gonads and internal structures (ovarian tubes, uterus, and cervix) that are derivatives of the Müllerian ducts are preserved since the substance that normally causes involution of these structures in men (Müllerian inhibiting factor) is not produced by the fetal ovary [6]. Biochemical findings and an imaging report along with clinical features led to the diagnosis of 11β-hydroxylase deficiency.…”

Section: Discussionmentioning

confidence: 99%

A child with hypertension and ambiguous genitalia – an uncommon variant of congenital adrenal hyperplasia: a case report

Pant¹,

Baral²,

Shrestha³

et al. 2017

J Med Case Reports

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BackgroundDeficiency in 11β-hydroxylase as a cause of congenital adrenal hyperplasia is uncommon. It should be considered in the differential diagnosis of hypertension with virilization in any prepubescent child.Case presentationA 12-year-old Asian boy from eastern Nepal presented with pain in his abdomen and hypertension. He was raised as a male but had absent testicles since birth and had precocious puberty. Plasma testosterone, follicle-stimulating hormone, and luteinizing hormone were below baseline level. Basal 17-hydroxyprogesterone was elevated. Magnetic resonance imaging of his pelvis showed presence of Müllerian structures and karyotyping revealed 46,XX genotype. A clinical diagnosis of 11β-hydroxylase deficiency was made in view of hypertension with severe virilization in a 46,XX individual. Our patient’s legal guardian was unwilling for our patient to change gender and because our patient is underage, the condition was well explained to his parents. He was managed with steroids and antihypertensive drugs. He was on regular follow-up; after 2 years there was no hypertension but he developed true puberty with functional ovaries. He was prescribed leuprolide (gonadotropin-releasing hormone analogue), letrozole (aromatase inhibitor), and a continuation of antihypertensive drugs.ConclusionsThis case highlights the importance of a thorough physical examination of the external genitalia at birth and appropriate referral, and addresses issues in the management of such a disorder. Ethical issues pertaining to consent and who is entitled to give it should be clear so that the affected individual will have optimal psychological development and quality of life.

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Section: Discussionmentioning

confidence: 99%