De novo ARID1A Coffin-Siris syndrome with hypothyroidism and dyslipidemia: A case report and literature review

Table 3 Reported cases of thyroid disease, dyslipidemia and growth hormone deficiency in patients with Coffin-Siris syndrome and specific Coffin-Siris syndrome variants

Pathology	Study design	Patients	CSS variant	Results	Ref.
Hypothyroidism	Cross-sectional	n = 79 patients with ARID1B-CSS	ARID1B	38 patients (15.8%) exhibited hypothyroidism	van der Sluijs et al[10]
	Cross-sectional	n = 54 patients with ARID1B-CSS	ARID1B	15% of the sample exhibited hypothyroidism	van der Sluijs et al[3]
	Case report	6-year-old girl	ARID1B	The patient received low-dose thyroid hormone (levothyroxine 25 μg/day)	Lee and Ki[42]
	Case series	8 cases of ARID1B-CSS (5 month-6 years)	ARID1B	Of the 8 cases, only one girl exhibited hypothyroidism	Kolkiran et al[4]
	Case series	n = 12 children with CSS	BICRA	Out of 12 children, only a 28-month-old girl exhibited hypothyroidism	Barish et al[39]
	Case report	10-year-old girl	SMARCA4	At the age of 3 months, the girl was diagnosed with congenital hypothyroidism and has been on levothyroxine since	Shah et al[40]
	Case report	30-year-old woman	SMARCA4	Diagnosed with Hashimoto hypothyroidism, receiving 75 μg T4 daily	Mitrakos et al[41]
Dyslipidemia	Case series	8 cases of ARID1B-CSS (age: 6 years and 5 months)	ARID1B	Of the 8 cases, only one girl exhibited hyperlipidemia	Kolkiran et al[4]
GH deficiency	Cross-sectional	n = 79 ARID1B-CSS patients	ARID1B	33 patients (18.2%) exhibited GH deficiency, of which 31 received rhGH supplementation	van der Sluijs et al[10]
	Cross-sectional	n = 54 patients with ARID1B-CSS	ARID1B	2% of the sample exhibited GH deficiency	van der Sluijs et al[3]
	Case report	12-year-5-month-old girl	ARID1B	GH deficiency was diagnosed at the age of 9 years and rhGH therapy was initiated	Mouskou et al[10]
	Case report	12yearold Chinese girl	ARID1B	GH deficiency was diagnosed and rhGH was given, resulting in significantly improved height	Tao et al[53]
	Case report	4-year-old girl	NR	The patient initiated rhGH replacement therapy	Bilha et al[52]
	Case report	Girl aged 2 years and 3 months	NR	rhGH therapy improved growth; however, it was ceased at the age of 7 after parental request	Baban et al[54]
	Case series	n = 17 children with CSS	ARID2	2 out of 17 children received rhGH therapy	Schrier Vergano et al[55]
	Case report	22-year-old male of mixed European descent	BICRA	Diagnosed with GH deficiency in early childhood, received rhGH therapy (Omnitrope) for 2 years with partial improvement in growth velocity	Wang[56]
	Case series	n = 8 children with CSS	DPF2	The child with the DPF2 variant (c.894_904+6del; p.Cys298Trpfs*38) had GH deficiency	Mcglacken-Byrne et al[57]
	Case report	5 years and 7 months old girl	DPF2	rhGH therapy was initiated at the age of 5 years and 7 months old at a daily dose of 2 IU	Li et al[11]

CSS: Coffin-Siris syndrome; GH: Growth hormone; IU: International units; NR: Not reported; rhGH: Recombinant human growth hormone.