Pendred’s syndrome is:
Wait, the options were not given here. The user provided the question with A-D options but didn't list them. The correct answer is given as, say, option C? Well, since the options are missing, I need to infer based on the correct answer's text. Let me think of possible options. Common options for such a question might include different syndromes or characteristics. For example, Pendred's is often confused with other syndromes like Usher syndrome, which includes hearing loss and retinitis pigmentosa. Or maybe options about the inheritance pattern, associated features, or gene defects.
The core concept here is understanding Pendred's syndrome's clinical features and genetic basis. The correct answer would likely mention the combination of hearing loss and goiter, and the gene involved. The incorrect options might be other syndromes with similar features but different associations. For example, Usher syndrome has retinitis pigmentosa, which Pendred's doesn't. Another incorrect option might be a different gene defect, like GJB2 for DFNB1 hearing loss. Also, the inheritance pattern is autosomal recessive, not dominant.
So, for the explanation, the core concept is the autosomal recessive disorder with sensorineural deafness and goiter due to SLC26A4 gene mutation. The correct answer is the one that states this. The wrong options would be other syndromes or incorrect genes. The clinical pearl would be to remember the key features and the gene involved. The correct answer line would be the option that states Pendred's is an autosomal recessive disorder with sensorineural deafness and goiter caused by SLC26A4 mutation.
**Core Concept**
Pendred's syndrome is an **autosomal recessive** disorder characterized by **sensorineural hearing loss** and **congenital goiter** due to mutations in the **SLC26A4** gene. This gene encodes a **pendrin transporter** critical for iodide transport in thyroid follicular cells and inner ear endolymphatic sacs.
**Why the Correct Answer is Right**
The syndrome results from **loss-of-function mutations in SLC26A4**, impairing iodide organification in the thyroid (leading to goiter) and disrupting ion homeostasis in the cochlea (causing hearing loss). The **endolymphatic sac** in the inner ear is often enlarged on imaging, a hallmark of the condition. Unlike other syndromes, it does not involve retinal degeneration or cleft palate.
**Why Each Wrong Option is Incorrect**
**Option A:** Incorrect if it states "autosomal dominant inheritance"—Pendred's is strictly **autosomal recessive**.