Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with MYRF-Related Cardiac Urogenital Syndrome

System/ConcernEvaluationComment
Constitutional Measurement of growth parametersTo identify short stature & microcephaly
Genitourinary Thorough physical exam for phallic length, opening of urethral meatus, & location of gonads in 46,XY personsIf gonads are not palpable, pelvic & abdominal ultrasound may be considered.
Consider pelvic ultrasound.In 46,XX & 46,XY neonates & pubertal/postpubertal females 1
Renal ultrasoundAssess for structure & hydronephrosis.
Endocrine Hormonal eval as directed by endocrinologistFor those w/46,XY DSD
Consider TSH & free T4.To evaluate for hypothyroidism in those w/poor growth &/or DD
Eyes Ophthalmic evalTo assess for eye anomalies & refractive error
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Cardiovascular EchocardiogramTo assess for congenital heart defects
Respiratory Clinical assessment of breathing status & auscultationIncl assessment of work of breathing & oxygen saturation, if clinically indicated
Chest radiographTo assess for pulmonary hypoplasia & diaphragmatic hernia
Gastrointestinal/
Feeding 2 		Gastroenterology / nutrition / feeding team eval
  • To incl eval of aspiration risk & nutritional status, esp in those w/cardiac &/or pulmonary malformations, delayed milestones, or neurologic deficits
  • Consider eval for gastrostomy tube placement in persons w/dysphagia &/or aspiration risk.
Consider upper GI exam w/small bowel follow through.
  • To evaluate for malrotation
  • This is esp important when a PEG or gastrostomy tube is being considered.
Consider abdominal ultrasound.To evaluate for splenic anomalies & renal anomalies
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI, & implications of MYRF-CUGS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

DD = developmental delay; DSD = differences of sex development; PEG = percutaneous gastrostomy; MOI = mode of inheritance; MYRF-CUGS = MYRF-related cardiac urogenital syndrome; TSH = thyroid-stimulating hormone

1.

Müllerian structures may be difficult to visualize on imaging in individuals who are not exposed to estrogen. Therefore, inability to visualize internal müllerian structures on imaging does not rule out their presence. Examination under anesthesia and/or laparoscopy may be required to detect the presence of müllerian structures and to define any müllerian anomalies.

2.

Growth and feeding issues are often secondary complications in affected individuals with cardiopulmonary issues.

3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: MYRF-Related Cardiac Urogenital Syndrome

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