HYPERPLASIE CONGENITALE DES SURRENALES PDF

Request PDF on ResearchGate | On Sep 1, , M. Mnif Feki and others published Devenir à l’âge adulte de l’hyperplasie congénitale des surrénales par . Request PDF on ResearchGate | On Jan 1, , D. Samara-Boustani and others published Hyperplasie congénitale des surrénales: les formes précoces. Download Citation on ResearchGate | On Dec 31, , Anne Bachelot and others published Hyperplasie congénitale des surrénales par déficit en.

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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 by 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 congeniitale 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 were 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.

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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 screening is not performed. The appearance of pubic hair at eds 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 polycystic ovary syndrome. Hyperplaxie early appearance of secondary sexual characteristics is associated with a gradual accumulation of OHP.

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Depending on severity, hydrocortisone or anti-androgens may 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 with 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.

Hyperplasie congénitale des surrénales, aider les parents à trouver leurs repères – EM|consulte

Hypertrichosis, Hirsutism, Congenital adrenal hyperplasia, Hyperandrogenism, Progesterone. Journal page Archives Articles in press.

Access to the text HTML. Access to the PDF text. Access to the full text of this article requires a subscription. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. 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.

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