Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with PPP1R12A-Related Urogenital and/or Brain Malformations

System/ConcernEvaluationComment
Genitourinary Assessment of external genitalia for anomalies, incl:
  • Attempt to palpate gonads in the scrotum/labioscrotal folds
  • Inspection of scrotum / labioscrotal folds, phallic structure for length, breadth, chordee, foreskin, & location of urethral opening, labio/scrotal-anal distance
  • Presence of vaginal dimple/introitus
  • Assessment of labioscrotal folds for fusion, rugation, & pigmentation
Consider referral to a multidisciplinary DSD team incl urology, endocrinology, genetics, gynecology, & psychology, if possible.
Consider karyotype w/FISH for SRY or chromosomal microarray.In those w/external genital anomalies & in phenotypic females
Renal/abdominal/pelvic ultrasoundTo assess for renal anomalies & müllerian structures
Endocrinology Consider obtaining hormone studies 1 between age 2 wks & 3 mos & at pubertal age to assess gonadal function.Consider referral to endocrinologist in those w/46,XY DSD.
Neurology Neurology eval
  • To incl brain MRI
  • Consider EEG if seizures are a concern.
Development Developmental assessment
  • To incl motor, adaptive, cognitive, & speech-language eval
  • Eval for early intervention / special education
Constitutional Measurement of growth parametersTo incl weight, length/height, & head circumference
GI/Feeding Gastroenterology/nutrition/feeding team eval in those w/feeding issues &/or FTT
  • To incl eval of nutritional status & aspiration risk
  • Consider eval for nasogastric or gastrostomy tube placement in those w/severe feeding issues, dysphagia, &/or aspiration risk.
  • Consider eval for structural GI issues, if signs/symptoms are consistent w/obstruction.
Ophthalmology Ophthalmologic evalTo assess for strabismus, cone/rod dysfunction, & refractive error
Audiology 2 Audiology evalTo assess for hearing loss in those w/speech delay &/or a known brain malformation
Skeletal Assess for digital & joint anomalies.Consider referral for orthopedics assessment / hand surgery if needed.
Genetic
counseling 		By genetics professionals 3To inform affected persons & their families re nature, MOI & implications of PPP1R12A-related UBMS to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

DSD = differences of sex development; FISH = fluorescence in situ hybridization; FTT = failure to thrive; GI = gastrointestinal; MOI = mode of inheritance

1.

Including but not limited to total testosterone, dihydrotestosterone, inhibin B, anti-müllerian hormone, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) to assess for gonadal function

2.

Although hearing loss is not a primary feature of PPP1R12A-related UBMS, assessment of hearing in an individual with significant developmental delay and/or brain malformation is recommended.

3.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome

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