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Nous rapportons deux cas chez des jumelles consultant pour une hypertrichose diffuse.
Non-classical congenital adrenal hyperplasia NC-CAH is a recessive autosomal disease caused cojgenitale a deficiency of adrenal steroidogenesis enzymes. It must be distinguished from classical CAH, either simple virilising or salt-wasting, diagnosed during the neonatal period and responsible for potentially lethal disorders of sexual differentiation.
NC-CAH presents a simpler and less specific clinical picture. Herein, we present two cases comprising twin girls consulting for diffuse hypertrichosis. Two 5-year-old twin girls de seen at our consultation for increased pilosity on all four limbs, but with no facial pilosity or synophrys, as well as comedones on the chin.
Their height and weight and psychomotor development was normal, with no signs of precocious puberty and no clitoral hypertrophy. VL was present in the heterozygous state in the older sister and the father, together with moderate hyperpilosity but without hirsutism or acne. It is often diagnosed late since routine neonatal surrenzles is not performed.
The appearance of pubic hair at around 5 to 7 years is the initial reason for consultation, particularly with a dermatologist.
Hyperandrogenism varies, involving hirsutism, acne, fertility disorders and premature ageing of bone. Cortisol and aldosterone levels are generally normal. The risk of acute adrenal insufficiency is extremely low.
Differential diagnosis concerns ovarian or adrenal tumors and congenitwle ovary syndrome. The early appearance of secondary sexual characteristics is associated with a gradual accumulation of OHP.
Depending on severity, hydrocortisone or anti-androgens cpngenitale be given, or where treatment fails, aesthetic measures such as epilation or hair discolouration may be performed.
In children presenting NC-CAH, the appearance of pubic hair and hirsutism often constitute the initial reasons for consultation, including hyperlpasie dermatologists. However, hypertrichosis may occur in isolation.
It is important that these abnormalities be clearly known to enable early diagnosis and rapid initiation of simple and readily accessible treatment. Hypertrichosis, Hirsutism, Congenital adrenal hyperplasia, Hyperandrogenism, Progesterone. Journal page Archives Articles in press. Access to the text HTML. Access to the PDF text.
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If you want to subscribe to this journal, see our rates. Disponible en ligne depuis le vendredi 9 mars Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia. Berthin aP. Sibilia bJ.
Martins-Hericher aA. Donzeau cL. Outline Masquer le plan. Top of the page – Article Outline.
Hyperplasie congénitale des surrénales, aider les parents à trouver leurs repères – EM|consulte
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