Two Cases of 21-Hydroxylase Deficiency in Reproductive Age Misdiagnosed as Polycystic Ovary Syndrome and Literature Review

doi:10.12280/gjszjk.20210611

Abstract

Abstract:

21-hydroxylase deficiency (21-OHD) is one of the most common congenital adrenal hyperplasia. The clinical symptom in part of patients with 21-OHD is atypical, so that 21-OHD is easy to be misdiagnosed or missed diagnosis. In this paper, we report 2 cases of 21-OHD that was misdiagnosed as polycystic ovary syndrome (PCOS) due to menstrual disorder, infertility and hyperandrogenemia. Sanger sequencing showed that one patient carried c.374G>A (p.Arg125His) and c.518T>A (p.Ile173Asn) heterozygous missense mutations, confirming that the mutant gene came from her parents. Another patient carried homozygous missense mutation of c.518T>A (p.Ile173Asn), and the source of mutation was not clear because her relatives were not detected. With the treatment of oral dexamethasone, 2 patients were restored the regular menstruation, and improved the symptoms of hyperandrogenism. One patient got successful pregnancy and childbirth. When women of childbearing age with infertility and hyperandrogenemia were diagnosed as PCOS, and the treatment effect is not good, 21-OHD should be considered. The combination of 17-OHP assay, ACTH excitation test and gene mutation test will be helpful for the definite diagnosis and differential diagnosis.

Key words: Steroid 21-hydroxylase, Hyperandrogenism, Adrenal hyperplasia, congenital, Polycystic ovary syndrome, Genes, Mutation, missense, 21-hydroxylase deficiency

CHI Xue-xiu, GUO Bao-qiang, YU Shan, HE Dong-hua. Two Cases of 21-Hydroxylase Deficiency in Reproductive Age Misdiagnosed as Polycystic Ovary Syndrome and Literature Review[J]. Journal of International Reproductive Health/Family Planning, 2022, 41(4): 289-293.

Figures/Tables 4

References 18

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检测时间	T（nmol/L）	P（nmol/L）	FSH（U/L）	LH（U/L）	E₂（pmol/L）	ACTH（pmol/L）	17-OHP（nmol/L）	AD（nmol/L）	DHEAs（μmol/L）
2020-06-16	3.42	15.27	6.19	15.62	338.11	4.72	62.42	28.00	13.23
2020-07-20	0.33	3.80	4.90	7.60	2 138.54	5.10	-	-	-
2020-08-31	0.22	126.20	6.62	6.13	588.90	4.56	21.82	10.62	4.70
2021-07-26	0.09	1.17	8.17	3.40	274.10	0.23	20.60	6.25	3.14
参考范围	0.29~1.67	卵泡期0~0.9	卵泡期3.4~21.6	卵泡期1.8~11.8	卵泡期282.17~336.72	1.44~12.72	卵泡期0.15~3.09	1.04~11.45	2.57~8.84

检测时间	T（nmol/L）	P（nmol/L）	FSH（U/L）	LH（U/L）	E₂（pmol/L）	ACTH（pmol/L）	17-OHP（nmol/L）	AD（nmol/L）	DHEAs（μmol/L）
2020-06-16	3.42	15.27	6.19	15.62	338.11	4.72	62.42	28.00	13.23
2020-07-20	0.33	3.80	4.90	7.60	2 138.54	5.10	-	-	-
2020-08-31	0.22	126.20	6.62	6.13	588.90	4.56	21.82	10.62	4.70
2021-07-26	0.09	1.17	8.17	3.40	274.10	0.23	20.60	6.25	3.14
参考范围	0.29~1.67	卵泡期0~0.9	卵泡期3.4~21.6	卵泡期1.8~11.8	卵泡期282.17~336.72	1.44~12.72	卵泡期0.15~3.09	1.04~11.45	2.57~8.84

检测时间	T（nmol/L）	P（nmol/L）	FSH（U/L）	LH（U/L）	E₂（pmol/L）	ACTH（pmol/L）	17-OHP（nmol/L）	AD（nmol/L）	DHEAs（μmol/L）
2020-08-17	8.52	45.99	9.99	4.98	764.21	12.64	554.34	>34.7	6.85
2020-09-04	0.09	3.80	6.12	3.56	2 138.54	3.12	321.94	25.33	5.26
2020-10-20	1.51	35.21	4.90	7.60	588.90	3.18	-	-	-
2021-01-08	0.68	7.61	2.78	2.88	5 903.18	10.42	67.57	8.33	2.32
参考范围	0.29~1.67	卵泡期0~0.9	卵泡期3.4~21.6	卵泡期1.8~11.8	卵泡期282.17~336.72	1.44~12.72	卵泡期0.15~3.09	1.04~11.45	2.57~8.84

检测时间	T（nmol/L）	P（nmol/L）	FSH（U/L）	LH（U/L）	E₂（pmol/L）	ACTH（pmol/L）	17-OHP（nmol/L）	AD（nmol/L）	DHEAs（μmol/L）
2020-08-17	8.52	45.99	9.99	4.98	764.21	12.64	554.34	>34.7	6.85
2020-09-04	0.09	3.80	6.12	3.56	2 138.54	3.12	321.94	25.33	5.26
2020-10-20	1.51	35.21	4.90	7.60	588.90	3.18	-	-	-
2021-01-08	0.68	7.61	2.78	2.88	5 903.18	10.42	67.57	8.33	2.32
参考范围	0.29~1.67	卵泡期0~0.9	卵泡期3.4~21.6	卵泡期1.8~11.8	卵泡期282.17~336.72	1.44~12.72	卵泡期0.15~3.09	1.04~11.45	2.57~8.84