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[Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia].
Ann Dermatol Venereol. 2018 Apr; 145(4):270-277.AD

Abstract

BACKGROUND

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 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.

PATIENTS AND METHODS

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. Levels of 17OH-P and SDHA were high, while FSH and LH were low and IGF1 and TSH were normal. Analysis of gene CYP21 associated with NC-CAH showed mutations p.V281L and IVS2-13A/C>G. Mutation p.V281L was present in the heterozygous state in the older sister and the father, together with moderate hyperpilosity but without hirsutism or acne. No mutations were found in the mother, indicating either de novo appearance of mutation IVS2-13A/C>G in the twins or germline mosaicism in the mother.

DISCUSSION

We diagnosed NC-CAH as the cause of diffuse hypertrichosis in these twins. This disease is not rare, with a prevalence of 1/1000 to 1500 among peoples of European descent. It is often diagnosed late since routine neonatal screening is not performed. In some cases, NC-CAH remains asymptomatic. 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 polycystic ovary syndrome. 21-OH deficiency results in defective cortisol and aldosterone synthesis, and thus in raised ACTH, leading to increased adrenal androgen secretion. The early appearance of secondary sexual characteristics is associated with a gradual accumulation of 17-OHP. 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.

CONCLUSION

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.

Authors+Show Affiliations

Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France.Centre de référence des pathologies de la réceptivité hormonale, service d'endocrinologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France.Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France.Service de pédiatrie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France.Service de dermatologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex, France. Electronic address: LuMartin@chu-angers.fr.

Pub Type(s)

Case Reports
Journal Article
Twin Study

Language

fre

PubMed ID

29525066

Citation

Berthin, C, et al. "[Diffuse Hypertrichosis Revealing Non-classical Congenital Adrenal Hyperplasia]." Annales De Dermatologie Et De Venereologie, vol. 145, no. 4, 2018, pp. 270-277.
Berthin C, Sibilia P, Martins-Hericher J, et al. [Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia]. Ann Dermatol Venereol. 2018;145(4):270-277.
Berthin, C., Sibilia, P., Martins-Hericher, J., Donzeau, A., & Martin, L. (2018). [Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia]. Annales De Dermatologie Et De Venereologie, 145(4), 270-277. https://doi.org/10.1016/j.annder.2018.02.003
Berthin C, et al. [Diffuse Hypertrichosis Revealing Non-classical Congenital Adrenal Hyperplasia]. Ann Dermatol Venereol. 2018;145(4):270-277. PubMed PMID: 29525066.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Diffuse hypertrichosis revealing non-classical congenital adrenal hyperplasia]. AU - Berthin,C, AU - Sibilia,P, AU - Martins-Hericher,J, AU - Donzeau,A, AU - Martin,L, Y1 - 2018/03/07/ PY - 2017/05/06/received PY - 2017/11/20/revised PY - 2018/02/06/accepted PY - 2018/3/12/pubmed PY - 2018/12/12/medline PY - 2018/3/12/entrez KW - Congenital adrenal hyperplasia KW - Hirsutism KW - Hirsutisme KW - Hyperandrogenism KW - Hyperandrogénie KW - Hyperplasie congénitale des surrénales KW - Hypertrichose KW - Hypertrichosis KW - Progesterone KW - Progestérone SP - 270 EP - 277 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 145 IS - 4 N2 - BACKGROUND: 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 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. PATIENTS AND METHODS: 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. Levels of 17OH-P and SDHA were high, while FSH and LH were low and IGF1 and TSH were normal. Analysis of gene CYP21 associated with NC-CAH showed mutations p.V281L and IVS2-13A/C>G. Mutation p.V281L was present in the heterozygous state in the older sister and the father, together with moderate hyperpilosity but without hirsutism or acne. No mutations were found in the mother, indicating either de novo appearance of mutation IVS2-13A/C>G in the twins or germline mosaicism in the mother. DISCUSSION: We diagnosed NC-CAH as the cause of diffuse hypertrichosis in these twins. This disease is not rare, with a prevalence of 1/1000 to 1500 among peoples of European descent. It is often diagnosed late since routine neonatal screening is not performed. In some cases, NC-CAH remains asymptomatic. 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 polycystic ovary syndrome. 21-OH deficiency results in defective cortisol and aldosterone synthesis, and thus in raised ACTH, leading to increased adrenal androgen secretion. The early appearance of secondary sexual characteristics is associated with a gradual accumulation of 17-OHP. 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. CONCLUSION: 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. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/29525066/[Diffuse_hypertrichosis_revealing_non_classical_congenital_adrenal_hyperplasia]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0151-9638(18)30092-9 DB - PRIME DP - Unbound Medicine ER -