open access

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.
Affiliations
  1. Gynecology Department, University Hospital Center of Coimbra (CHUC), Portugal
  2. Faculty of Medicine of Coimbra University, Coimbra, Portugal
  3. Gynecology Department, University Hospital Center of Coimbra (CHUC), Portugal, Portugal
  4. Pediatric Endocrinology Department, University Hospital Center of Coimbra (CHUC), Portugal, Portugal

open access

Vol 94, No 3 (2023)
ORIGINAL PAPERS Gynecology
Published online: 2022-02-28

Abstract

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.

Abstract

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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Keywords

congenital adrenal hyperplasia; hyperandrogenism; steroid 21-hydroxylase; menstruation disorders; amenorrhea

About this article
Title

Congenital adrenal hyperplasia in adolescence — a gynecological perspective

Journal

Ginekologia Polska

Issue

Vol 94, No 3 (2023)

Article type

Research paper

Pages

170-176

Published online

2022-02-28

Page views

2947

Article views/downloads

1043

DOI

10.5603/GP.a2021.0248

Pubmed

35315010

Bibliographic record

Ginekol Pol 2023;94(3):170-176.

Keywords

congenital adrenal hyperplasia
hyperandrogenism
steroid 21-hydroxylase
menstruation disorders
amenorrhea

Authors

Joana Correia Oliveira
Filipa Costa Sousa
Sara Teixeira Campos
Fernanda Bento Geraldes
Joana Lopes Belo
Maria Helena Leite
Maria Alice Mirante
Maria Fernanda Águas

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