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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 59:62, 1995.  [PubMed: 8849014]

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