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At a glance

An acronym that stands for Pulmonary hypoplasia, hypoplasia of the pulmonary Artery, aGonadism, Omphalocele/diaphragmatic defect, and Dextrocardia. Effectively agonadism with multiple internal organ malformations.

Synonyms

Agonadism with Multiple Internal Malformations; Kennerknecht Sorgo Oberhoffer Syndrome; Omphalocele-Diaphragmatic Defect Syndrome.

History

First described by German Geneticist Ingo Kennerknecht in 1993.

Incidence

Unknown; fewer than 10 cases worldwide.

Genetic inheritance

Autosomal recessive.

Pathophysiology

Secondary regression of midline structures, including wolffian and müllerian structures, has been evocated to explain pathogenesis (considering mesodermal structures malformations and association of 46,XX constitution with agonadism and intact urogenital tract).

Diagnosis

Signs association does not exist in any other described syndrome and may evocate the diagnosis.

Clinical aspects

Genital abnormalities are always observed with abnormal ovaries, small or atrophic testis, uterine, and vaginal malformations. Cardiopulmonary disorders can include hypoplastic lungs, pulmonary artery hypoplasia, cardiac septal defect, coarctation of the aorta, and patent ductus arteriosus. Gastrointestinal tract malformations concern exomphalos and malrotation of the colon. Diaphragmatic hernia is present. Cleft palate, short stature, and mental retardation were observed in two cases.

Precautions before anesthesia

Precise medical evaluation has to be done before any surgical or interventional procedure. Evaluate cardiac function (ECG, echocardiography); pulmonary function (chest radiograph, arterial blood gas analysis, CT, pulmonary function test in old-enough patients). Search for and evaluate other malformative associations (digestive, facial, genital).

Anesthetic considerations

No cases described. Anesthesia guided by cardiac and pulmonary disorders. Hemodynamic systemic variables must be improved before induction of anesthesia. In newborns, the presence of lung hypoplasia and its ongoing management should delay elective surgery.

Pharmacological implications

Drugs with cardiac depressive effects have to be used carefully. Use prophylactic antibiotics if required.

Other condition to be considered

  • Kennerknecht Vogel Syndrome (Agonadism Mental Retardation Delayed Bone Age Syndrome): Characterized by a normal female external genitalia, and absence of gonadal tissue. Except for omphalocele, right renal agenesis, and malrotation of the colon, internal organs tend to be normal. Mental retardation, dwarfism, and markedly retarded bone age are reported. Other minor anomalies include peculiar face, hypodontia, short neck, inverted nipples, thoracolumbar scoliosis, “dysplastic” hips, and partial clino-/syndactyly of the toes. It represents a new autosomal recessive syndrome with a normal 46,XY chromosomal constitution.

References

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Kennerknecht  I, Sorgo  W, Oberhoffer  R,  et al: Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome. Am J Med Genet 47:1166, 1993.  [PubMed: ...

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