A case report of Waardenburg syndrome with primary amenorrhea and short stature， and a review of literature

doi:10.16150/j.1671-2870.2025.04.013

Abstract

Abstract:

This article reports a case of a 17-year-old female patient who presented with absent secondary sexual characteristics and primary amenorrhea. The patient's clinical manifestations included hearing loss, blue irides, and telecanthus, accompanied by short stature, bilateral cubitus valgus, and shield-shaped chest. Laboratory tests indicated hypogonadotropic hypogonadism with partial growth hormone deficiency, and ultrasound revealed a rudimentary uterus. Whole-exome sequencing identified a c.1029dup (p.Thr344Hisfs*58) mutation in the SOX10 gene, confirming the diagnosis of Waardenburg syndrome (WS). Sanger sequencing confirmed that this was a de novo mutation, which has not been reported in public databases. Family investigation showed that the mutation was not detected in peripheral blood samples from the patient's parents. This mutation expands the genetic mutation spectrum and clinical data of WS. In cases of unexplained hearing impairment, abnormal pigmentation, and growth retardation in children, SOX10 gene mutation should be conside-red, and genetic testing should be performed early to establish a diagnosis.

Key words: SOX10, Waardenburg syndrome, Dyspigmentation, Hypogonadotropic hypogonadism, Hearing loss

CLC Number:

R596
R446

YAO Xin, LI Mengjie, YE Shandong, ZHENG Mao. A case report of Waardenburg syndrome with primary amenorrhea and short stature， and a review of literature[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(04): 455-458.

Figures/Tables 4

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Table 2

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References 18

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指标	数值	正常范围
游离三碘甲腺原氨酸	6.84	3.70~6.93 pmol/L
游离甲状腺激素	13.13	11.61~21.41 pmol/L
促甲状腺激素	2.602	0.51~4.94 mIU/L
血清皮质醇	426.09	117.50~686.85 mmol/L
促肾上腺皮质激素	43.10	0~46 pg/mL
生长激素	0.23	0.123~8.050 ng/mL
胰岛素样生长因子1	210.00	190~429 ng/mL
胰岛素样生长因子结合蛋白3	7.15	3.4~9.5 ng/mL

时间	FSH (IU/L)	LH (IU/L)	E2 (pg/mL)
0 min	<0.3	0.47	<5.00
30 min	1.56	1.88	<5.00
60 min	1.96	2.07	<5.00
90 min	2.50	2.33	<5.00
120 min	2.98	2.42	<5.00
240 min	3.45	1.69	<5.00
24 h	0.66	0.87	<5.00

病例	文献	国家	性别	年龄（岁）	WS表型	IHH诊断	其他表型	SOX10突变
1	本文	中国	女	17	HL、 DP	nIHH	双侧内眦增宽，身材矮小，双侧肘外翻，盾状胸	c.1029dup（p.Thr34 Hisfs*58）
2	Li等^[3]	中国	女	28	HL、 DP	nIHH	系统性红斑狼疮	c. 175 C > T（p. Q59X）
3	任洁等^[4]	中国	男	18	HL、 DP	nIHH	鼻根略宽大	c.336G>T（p.Met112Ile）
4	Wang等^[5]	中国	男	18	HL、 DP	KS	骨龄推迟（骨龄约13岁）	22q13.1 微缺失
5	Chen等^[6]	中国	男	28	HL、 DP	KS	肥胖，双侧乳房增大伴轻度压痛及乳腺结节	c.1179_1180insACTATGGCTCAGCCTTCCCC（p.Ser394fs）
6	Wang等^[7]	中国	男	30	HL、 DP	KS	身材矮小，甲状腺功能亢进症	c.565G>T（p.E189X）
7	Izumi等^[8]	日本	女	14	HL、 DP	nIHH	身材矮小	c.506delC（p.P169fsX117）
8	Suzuki等^[9]	日本	男	15	HL、 DP	KS	无	c.434T>C（p.Leu145Pro）
9	Vaaralahti等^[10]	芬兰	男	17	HL	KS	无	c.184G>T （p.Glu62X）
10	Parry等^[11]	美国	男	30	HL、 DP	nIHH	白内障，头小，关节活动受限，骨肉瘤	/