Classic congenital adrenal hyperplasia and its impact on reproduction

Gomes, Larissa G.; Bachega, Tania A.S.S.; Mendonca, Berenice B.

doi:10.1016/j.fertnstert.2018.11.037

Cited by 65Sexual Differentiation and DisordersOvarian function and disordersAdrenal Hormones and Disorders

Classic congenital adrenal hyperplasia and its impact on reproduction

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Gomes, Larissa G., Bachega, Tania A.S.S., Mendonca, Berenice B.·2019·Fertility and Sterility

DOI 10.1016/j.fertnstert.2018.11.037

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Abstract

Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility rates as a result of increased androgen secretion or impaired sex steroid production. In virilizing CAH forms, such as 21-hydroxylase and 11β-hydroxylase deficiency, the low reported pregnancy rate is mainly secondary to a diminished desire to conceive. Optimal glucocorticoid and/or mineralocorticoid replacement, sufficient to normalize androgen and P levels in the follicular phase, allows natural conception in most cases. The remaining CAH forms exemplified by StAR, P450scc, P450-oxidoreductase, and 17α-hydroxylase/17-20 lyase deficiencies are associated with impaired sex steroid production. Several factors are involved in the true low fertility rate in this group: folliculogenesis arrest, uterine hypoplasia, and inadequate endometrial thickness related to aberrant androgen, estrogen, and P secretion. There are several reports of successful term pregnancies achieved through controlled ovarian hyperstimulation, followed by estrogen replacement and IVF. Progress in female genitalia reconstructive surgery, individualized hormonal therapies, psychosexual evaluation, and assisted reproductive technology have improved fertility and pregnancy outcomes in women with classic CAH. Finally, successful gestational management in CAH patients requires the close coordination of care between endocrinologists and obstetricians.

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Poor hormonal control in CAH is associated with acne, female hirsutism, male pattern baldness, altered body habitus, irregular menses, and sub-normal fertility.
“Young women with well-controlled CAH usually experience normal menarche (34), but poor control is associated with acne, female hirsutism, male pattern baldness, altered body habitus, irregular menses, and sub-normal fertility (35).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [35]
When patients attempt pregnancy, the success rate seems to have increased in the last twenty years, as a result of various factors, including increased understanding of the effect of androgen and progesterone levels, and the level of mineralocorticoid substitution.
“When patients attempt pregnancy, the success rate seems to have increased in the last twenty years, as a result of various factors, including increased understanding of the effect of androgen and progesterone levels, and the level of mineralocorticoid substitution (35).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [35]

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Additional file 2 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
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Additional file 5 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12097005
Additional file 6 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12097008
Additional file 4 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q. J., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12096996
Additional file 3 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12096990
Additional file 7 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q. J., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12097011
Additional file 1 of Exploring the roles of fecundity-related long non-coding RNAs and mRNAs in the adrenal glands of small-tailed Han Sheep
Xia, Q., Li, Q., Gan, S., Guo, X., Zhang, X., Zhang, J., & Chu, M. (2020) · Figshare · doi:10.6084/m9.figshare.12096972
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Self-citation
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Authors: Gomes, L. G., Bachega, T. A. S. S., & Mendonca, B. B.
Affiliations: Universidade de São Paulo (BR)
Corresponding author: Mendonca, Berenice B.
ORCID: Gomes, Larissa G.
Mendonca, Berenice B.
Venue: Fertility and Sterility
Publisher: Elsevier BV
Published: 2019-01
Volume: 111
Issue: 1
Pages: 7-12
ISSN: 0015-0282 (ISSN-L)
DOI: 10.1016/j.fertnstert.2018.11.037
OpenAlex: W2907667895
Semantic Scholar: 83c97c75e26d5e58f6e46f7bf85c8e3cab44163f
Cited by: 58
References: 63
Citations by year: 2026: 6 · 2025: 5 · 2024: 6 · 2023: 12 · 2022: 8 · 2021: 9 · 2020: 8 · 2019: 4
FWCI: 0.79
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1242 d)
Locations: Fertility and Sterility (publishedVersion)
PubMed (publishedVersion)
Funders: Fundação de Amparo à Pesquisa do Estado de São Paulo (2015/17350-0)
Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (2014/1459789)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (303002/2016-6, 303088/2015-0)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords: classic congenital adrenal hyperplasia, female fertility, pregnancy outcomes, 21-hydroxylase deficiency, 11beta-hydroxylase deficiency, steroidogenic enzyme deficiency, hyperandrogenism, sex steroid production, uterine hypoplasia, endometrial thickness, controlled ovarian stimulation, in vitro fertilization, glucocorticoid replacement therapy, mineralocorticoid replacement, assisted reproduction
MeSH terms: Adrenal Hyperplasia, Congenital, Birth Rate, Female, Fertility, Humans, Male, Pregnancy, Reproduction, Steroid 17-alpha-Hydroxylase, Steroid 21-Hydroxylase, Pregnancy Rate

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Classic congenital adrenal hyperplasia and its impact on reproduction

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