| Domain | Key findings/statistics | Best supporting citation IDs |
|---|---|---|
| Identifiers | Woodhouse–Sakati syndrome (WSS); autosomal recessive multisystem neuroendocrine disorder caused by biallelic **DCAF17** variants; **MONDO:0009419**; **OMIM:241080** (disease); **DCAF17 OMIM:612515** | (pqac-00000000, pqac-00000009, pqac-00000011) |
| Core phenotype | Hallmark features: **hypogonadism** and **alopecia**; additional common findings include diabetes mellitus, hypothyroidism, sensorineural hearing loss, intellectual disability, dysarthria/dysphagia, and progressive extrapyramidal signs; adolescence/puberty is a typical presentation window | (pqac-00000003, pqac-00000004, pqac-00000006) |
| Neurologic phenotype frequencies | In a genetically confirmed **n=38** cohort: neurologic involvement **31/38 (81.5%)**; dystonia **25/38 (65.7%)**; intellectual disability **36.8%–45%**; sensorineural hearing loss **31.5%–30%**; seizures **10.5%**; rigidity **5.2%**; tremor/ataxia/choreoathetosis **2.6%**. Severe phenotype in **18/38 (47.4%)** with mean neurologic onset **12.6 ± 4.5 y** and loss of ambulation over **7.4 ± 3.6 y**; milder/absent neurologic phenotype in **20/38 (52.6%)** with later onset **18.1 ± 4.3 y** | (pqac-00000001, pqac-00000005) |
| Endocrine phenotype | Diabetes and hypothyroidism are frequent; review estimates about **~50% diabetes** and **~30% hypothyroidism**. Females often present with delayed/absent puberty and **primary amenorrhea**; hypergonadotropic hypogonadism, low estradiol, absent/underdeveloped ovaries, and low IGF-1 are reported. In one c.436delC table subset: hypogonadism **100%**, diabetes **28%**, hypothyroidism **20%** | (pqac-00000002, pqac-00000004, pqac-00000006, pqac-00000023) |
| Imaging findings | Typical MRI: progressive periventricular/frontoparietal white-matter abnormalities or leukodystrophy and iron deposition in **globus pallidus** ± substantia nigra/red nucleus; small pituitary also reported. However, a 2024 case showed **no reportable T2/ADC/SWI MRI abnormalities**, expanding the spectrum | (pqac-00000004, pqac-00000020, pqac-00000022) |
| Genetics/variants | Systematic review found **185 patients from 97 families in 12 countries** and **13 pathogenic DCAF17 variants**. Most frequent founder/recurrent Arab variant: **c.436delC (p.Ala147Hisfs*9)**, reported across Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia; other variants include **c.321+1G>A**, **c.1091+2T>C**, **c.1488_1489delAG**, **c.153G>A (p.Trp51*)**, **c.270dup**, **c.1111delA**, **c.1238delA**. No clear genotype–phenotype correlation established | (pqac-00000010, pqac-00000011, pqac-00000012, pqac-00000013, pqac-00000015, pqac-00000033) |
| Management/treatment | No disease-specific curative therapy; management is multidisciplinary and symptom-directed. Reported approaches: **hormone replacement therapy** for puberty induction/amenorrhea (case report showed pubertal development and reversal of amenorrhea over 4 years), diabetes treatment with lifestyle/oral agents/insulin, **botulinum toxin** for focal dystonia, **deep brain stimulation (GPi DBS)** for refractory dystonia, plus physiotherapy/OT/SLT. A 2024 case reported **remarkable improvement** in dystonia control and ambulation after DBS + intensive rehab | (pqac-00000027, pqac-00000028, pqac-00000029, pqac-00000030, pqac-00000031) |
| Epidemiology/consanguinity | Extremely rare; literature-based review concentrated cases in the Greater Middle East. Among reviewed studies, **67%** of GME families had **consanguinity**. Most genetically confirmed cases/families were from GME populations, consistent with founder effects and autosomal recessive inheritance | (pqac-00000011, pqac-00000013, pqac-00000033) |


*Table: This table condenses the most actionable identifiers, phenotype statistics, genetics, imaging, treatment, and epidemiology for Woodhouse–Sakati syndrome. It is designed as a quick-reference summary for building or validating a disease knowledge base entry.*