Polymalformative syndrome with numerous
musculoskeletal anomalies and absent gonads.
Agonadism with Short Stature Mental Retardation and Delayed Bone Age
and multiple extragenital malformations.
Exact incidence unknown. One
case report of two sisters with 46,XY genotype but phenotypically female
with no gonadal tissue. Presumed autosomal recessive inheritance.
The parents were consanguineous.
The children were 14 and 16 years old with short
stature secondary to markedly reduced bone age. Other musculoskeletal
abnormalities included thoracolumbar scoliosis, hip dysplasia, and partial
clinosyndactyly of the toes. The face has been described as “peculiar” with a
short neck and hypodontia. The older sibling had an omphalocele, right renal
agenesis, and intestinal malrotation, but otherwise the internal organs were
normal. External genitalia were normal female, but gonadal tissue was absent
in both children. Both had significant developmental delay.
Abnormal facies and short neck may cause
difficulties with face-mask ventilation and/or laryngoscopy for tracheal
intubation. Progressive scoliosis may lead to restrictive lung
disease resulting in hypoxemia, pulmonary hypertension, and limited
respiratory reserve. Such patients are at increased risk for perioperative
respiratory complications and may require prolonged ventilatory support.
Evaluation should include a history for exertional dyspnea, physical
examination for signs of respiratory dysfunction and pulmonary hypertension
or cor pulmonale, and appropriate investigations. These would include
arterial blood gas analysis, chest radiography, pulmonary function testing
(FEV1, FVC, FEV1/FVC, total lung capacity, diffusing capacity),
and formal exercise testing. Positioning of the patient with scoliosis can
be awkward because of the kyphosis. Affected internal organs may result in
metabolic abnormalities. Developmental delay may limit cooperation and sedative/anxiolytic
premedication and the presence of the primary caregiver for induction of
anesthesia may be helpful.
Kennerknecht I, von Saurma P, Brenner R, et al: Agonadism in two sisters
with XY gonosomal constitution, mental retardation, short stature, severely
retarded bone age, and multiple extragenital malformations: A new autosomal
recessive syndrome. Am J Med Genet