Vol 94, No 3 (2023)
Research paper
Published online: 2022-02-28

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Congenital adrenal hyperplasia in adolescence — a gynecological perspective

Joana Correia Oliveira12, Filipa Costa Sousa3, Sara Teixeira Campos3, Fernanda Bento Geraldes3, Joana Lopes Belo3, Maria Helena Leite3, Maria Alice Mirante4, Maria Fernanda Águas3
Pubmed: 35315010
Ginekol Pol 2023;94(3):170-176.


Objectives: Analysis of congenital adrenal hyperplasia (CAH) cases, gynaecological implications, referral reasons to gynaecologist and treatment.

Material and methods: Retrospective, longitudinal, single-centre study with female CAH paediatric patients ≥ 10 years-old, followed between 1998–2018 in gynaecology and endocrinology departments at a public university tertiary hospital.

Results: 47 patients, 34.0% (n = 16) with classic, 66.0% (n = 31) with non-classic forms (NCAH), CYP21 deficit and 46,XX karyotype. We found a normal median menarche age (11.5 IQR 2 [6–15] years-old), but significantly earlier in NCAH (p = 0.003). Precocious puberty occurred in 48.9%, n = 23. Primary amenorrhea occurred in salt-wasting form (21.4%, n = 3). Oligomenorrhea and hirsutism were significantly more prevalent in NCAH (p = 0.018, p = 0.014 respectively) and acanthosis nigricans and virilization signs in classic forms (p = 0.05, p = 0.000 respectively). Sixteen patients (34.0%) were referred to gynaecology, mostly due to menstrual irregularities (50.0%, n = 8). Medical treatment with isolated or combined corticoids, oestrogen and progestogen were chosen in all but one case. Gonadotropin-releasing hormone analogues were used in 19.0% (n = 9). Surgery was performed in 34.0% (n = 16) patients, median age 2.0 IQR 2.5 (0.6–90) years-old.

Conclusions: This paper highlights the importance of a multidisciplinary approach. Early treatment contributes to a phenotypical feminine differentiation and normalization of the hypothalamus-pituitary-ovarian axis, which is essential given the gynaecologic and obstetric consequences of untreated cases.

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