Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach

Fernandez-Aristi, Augusto R.; Taco-Masias, Andre Alonso; Montesinos-Baca, Luis

doi:10.1016/j.eucr.2018.02.011

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…Hormonal replacement therapy should be combined with regular clinical and biochemical evaluation of these patients [ 15 ]. Surgical intervention might be indicated in some circumstances including undescended testis [ 63 ], hypospadias repair [ 20 ], and severe genital virilization [ 136 – 138 ]. Bilateral adrenalectomy has occasionally been used in selective cases with 21OHD or 11OHD to better control hyperandrogenism and/or to be able to lower the glucocorticoid doses with similar control of the hyperandrogenism [ 139 ].…”

Section: Physiologymentioning

confidence: 99%

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

2019

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Purpose 3β-hydroxysteroid dehydrogenase type 2 deficiency (3βHSD2D) is a very rare variant of congenital adrenal hyperplasia (CAH) causing less than 0.5% of all CAH. The aim was to review the literature. Methods PubMed was searched for relevant articles. Results 3βHSD2D is caused by HSD3B2 gene mutations and characterized by impaired steroid synthesis in the gonads and the adrenal glands and subsequent increased dehydroepiandrosterone (DHEA) concentrations. The main hormonal changes observed in patients with 3βHSD2D are elevated ratios of the Δ5-steroids over Δ4-steroids but molecular genetic testing is recommended to confirm the diagnosis. Several deleterious mutations in the HSD3B2 gene have been associated with saltwasting (SW) crisis in the neonatal period, while missense mutations have been associated with a non-SW phenotype. Boys may have ambiguous genitalia, whereas girls present with mild or no virilization at birth. The existence of non-classic 3βHSD2D is controversial. In an acute SW crisis, the treatment includes prompt rehydration, correction of hypoglycemia, and parenteral hydrocortisone. Similar to other forms of CAH, glucocorticoid and mineralocorticoid replacement is needed for long-term management. In addition, sex hormone replacement therapy may be required if normal progress through puberty is failing. Little is known regarding possible negative long-term consequences of 3βHSD2D and its treatments, e.g., fertility, final height, osteoporosis and fractures, adrenal and testicular tumor risk, and mortality. Conclusion Knowledge is mainly based on case reports but many long-term outcomes could be presumed to be similar to other types of CAH, mainly 21-hydroxylase deficiency, although in 3βHSD2D it seems to be more difficult to suppress the androgens.

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Section: Physiologymentioning

confidence: 99%

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

2019

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Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management

et al. 2018

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Clitoromegaly is an important sign of virilisation and poses difficulty in sex determination, when present since birth. The diagnosis and treatment in an adult is a major challenge to the treating gynaecologist. The primary reason for its development is androgen excess due to congenital adrenal hyperplasia, polycystic ovarian syndrome, ovarian virilising tumours, neurofibromas, adrenal neoplasm and prolonged intake of anabolic steroids. A case of young nulliparous married woman who presented with primary amenorrhoea and clitoromegaly and was managed successfully has been reported.

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Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)

Costa

Pinto

Marinho

et al. 2021

Nascer E Crescer - Birth and Growth Medical Journal

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Case report: Clitoromegaly as a consequence of Congenital Adrenal Hyperplasia. An accurate medical and surgical approach

Cited by 3 publications

References 4 publications

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

Clinical perspectives in congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase type 2 deficiency

Primary amenorrhoea and clitoromegaly in a nulliparous woman: successful medical and surgical management

Findings in physical examination of the external genitalia in pediatric age − different is not always pathological − Part I (male)

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