'H-syndrome': a multisystem genetic disorder with cutaneous clues
| Autor: | Krishna Shantilal Mori, Shriraam Mahadevan, Karthik Balachandran, Adyne Reena Asirvatham |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
Hypertrichosis
Adult Male medicine.medical_specialty Contracture Hearing Loss Sensorineural Case Report Nucleoside Transport Proteins Short stature 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Hypergonadotropic hypogonadism Pathognomonic 030225 pediatrics Medicine Humans business.industry Genetic disorder Genodermatosis General Medicine medicine.disease Dermatology Gynecomastia Mutation Sensorineural hearing loss medicine.symptom business Histiocytosis |
| Zdroj: | BMJ Case Rep |
| ISSN: | 1757-790X |
| Popis: | 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 SLC29A3 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. |
| Databáze: | OpenAIRE |
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