Mori Krishna Shantilal, Balachandran Karthik, Asirvatham Adyne Reena, Mahadevan Shriraam
Department of Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
Department of Endocrinology, Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India.
BMJ Case Rep. 2021 May 4;14(5):e238973. doi: 10.1136/bcr-2020-238973.
We present a case of a 25-year-old man who came to our Endocrine Clinic for evaluation of short stature. He had a history of sensorineural hearing loss, hypertrichosis and hyperpigmentation with the thickening of the skin below the hip, gynecomastia and autoimmune haemolytic anaemia. Investigations showed that he had hypergonadotropic hypogonadism. His phenotype was consistent with that of a rare autosomal recessive genodermatosis of 'H-syndrome'. The diagnosis was confirmed by genetic analysis using next-generation sequencing which showed a homozygous mutation in the gene (variant: c.1330G>T (p.Glu444Ter)) which was confirmed by Sanger sequencing. This is a rare syndrome with around 100 cases reported in world literature. Though the skin manifestations are pathognomonic of the H-syndrome, it has myriad presentations like short stature, insulin-dependent diabetes mellitus, hypogonadism, hypothyroidism, dyslipidaemia, cardiac anomalies and sensorineural hearing loss. We report this case to highlight the constellation of features of this rare syndrome and bring awareness among the physicians to be vigilant about this syndrome.
我们报告一例25岁男性患者，他因身材矮小前来我们的内分泌诊所就诊。他有感觉神经性听力损失、多毛症和色素沉着过度病史，伴有臀部以下皮肤增厚、男性乳房发育和自身免疫性溶血性贫血。检查显示他患有高促性腺激素性性腺功能减退。他的表型与罕见的常染色体隐性遗传性皮肤病“H综合征”一致。通过下一代测序进行的基因分析确诊了该诊断，结果显示该基因存在纯合突变（变异：c.1330G>T (p.Glu444Ter)），桑格测序证实了这一点。这是一种罕见综合征，世界文献报道约有100例。虽然皮肤表现是H综合征的特征性表现，但它还有许多其他表现，如身材矮小、胰岛素依赖型糖尿病、性腺功能减退、甲状腺功能减退、血脂异常、心脏异常和感觉神经性听力损失。我们报告此病例以突出这种罕见综合征的一系列特征，并提高医生对该综合征的警惕性。
