Clinical spectrum of female genital malformations in prenatal diagnosis

Mallmann, Michael R.; Gembruch, Ulrich

doi:10.1007/s00404-022-06441-3

Cited by 7 publications

(1 citation statement)

References 90 publications

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“…The primary prenatal guidelines for fetal ultrasound focus solely on the issue of sex disclosure 33,34 , except for a recent update in which it is recommended as good practice to just 'check the normal appearance of external genitalia' 35 . However, there are currently no prenatal guidelines specifically addressing fetal sex determination (except for the aforementioned 35 ), fetal genital pathology, prenatal DSDs or prenatal ambiguous/atypical genitalia, despite repeated calls for their inclusion 30,32,[36][37][38] . Furthermore, inclusion of the prenatal diagnosis of genital anomalies in the main postnatal guidelines and documents is minimal 2,3,6,7 .…”

Section: Prenatal Diagnosis Of Ambiguous/atypical Genitaliamentioning

confidence: 99%

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

López Soto,

Velasco Martínez,

Ferrández Martínez

et al. 2024

Ultrasound in Obstet & Gyne

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Section: Prenatal Diagnosis Of Ambiguous/atypical Genitaliamentioning

confidence: 99%

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

López Soto,

Velasco Martínez,

Ferrández Martínez

et al. 2024

Ultrasound in Obstet & Gyne

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Algorithm for Management of Children with DSD

Sharma,

Ratan

2024

Children With Differences in Sex Development

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Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency

Liu

Luo

Zhou

et al. 2023

Arch Gynecol Obstet

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Purpose: In this study, we analyzed the clinical characteristics of patients with nonclassical 21hydroxylase de ciency (NC21OHD) as well as the relationship between the gene mutations and endocrine hormones. In addition, the relationship between different basal 17-hydroxyprogesterone (17OHP) levels and patients' glucolipid metabolism, hormone levels, pregnancy, and treatment outcomes were examined. Methods: Clinical data of 78 females with NC21OHD from January 2012 to July 2022 in the Department of Endocrinology and Metabolism of the Third A liated Hospital of Guangzhou Medical University were retrospectively analyzed. Diagnosis was based on the 17OHP level combined with clinical manifestations, imaging, and other endocrine hormones and the cytochrome P450 c21, steroid 21hydroxylase (CYP21A2) gene.Results: The age at diagnosis of the 78 patients was 29.1 ± 4.2 years; 83.3% (65/78) of the patients had menstrual abnormalities, 70 patients were of childbearing age, and 97.1% (68/70) had a history of infertility with a median time of infertility of 3.6 years. Moreover, 71.8% (56/78) of the patients had polycystic ovaries, 26.9% (21/78) had hyperandrogenemia manifestations on physical examination, 66.7% (52/78) had adrenal hyperplasia, 32.1% (25/78) had combined dyslipidemia, and 41.0% (32/78) had combined insulin resistance. Pathogenic mutations were detected in 78.2% (61/78) of the patients with both CYP21A2 alleles; 14.1% (11/78) of the patients had only one allele and 7.7% (6/78) had no pathogenic mutations. The levels of total testosterone (TT), progesterone (P) (0 min, 30 min), and 17-OHP (0 min, 30 min, 60 min) in the Adrenocorticotropic hormone (ACTH) stimulation test varied between the groups. Furthermore, patients with NC21OHD were divided into 17OHP < 2 ng/ml, 2 ng/ml < 17OHP < 10 ng/ml, and 17OHP ≥ 10 ng/ml groups according to their different basal 17OHP levels. The 17OHP ≥ 10 ng/ml group had signi cantly higher TT, FT4, basal and post-stimulation progesterone, and 17OHP, net value added of 17-hydroxyprogesterone (△17OHP), net value added of 17-hydroxyprogesterone/net value added of cortisol ratio (△17OHP/△F), the incidence of adrenal hyperplasia, and number of gene mutations compared to those of the 17OHP < 2 ng/ml group (P < 0.05). NC21OHD infertile patients who received low-dose glucocorticoids showed a signi cant increase in pregnancy and live birth rates, and a signi cant decrease in miscarriage rate (all P < 0.05).Conclusion: Comprehensive analysis is important as NCCAH diagnoses may be false-positive or falsenegative based on clinical characteristics, hormone levels, and gene detection. Females with NC21OHD showed varying degrees of fertility decline; thus, low doses of glucocorticoid treatment for infertile females with NC21OHD can improve fertility and fertility outcomes.Ethics statement: The studies involving human participants were reviewed and approved by the Ethics Committee of the Third A liated Hospital of Guangzhou Medical University (approval number 2022103).

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Clinical spectrum of female genital malformations in prenatal diagnosis

Cited by 7 publications

References 90 publications

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

Prenatal ambiguous/atypical genitalia: why are we still missing it and how can we improve diagnosis?

Algorithm for Management of Children with DSD

Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency

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