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The disorder is called PAGOD syndrome for Pulmonary Hypoplasia, Hypoplasia of the Pulmonary Artery, Agonadism, Omphalocele/Diaphragmatic Defect, and Dextrocardia. Other multiple internal organ malformations are also reported.

Agonadism with Multiple Internal Malformations; Kennerbrecht Sorgo Oberhoffer Syndrome.

First described by Kennerbrecht in 1993.

Unknown; eight cases worldwide.

Autosomal recessive syndrome.

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).

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

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.

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).

Significant incidence of anesthesia consideration because of 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.

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

Kennerbrecht-Vogel 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.

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: 8291549]
Macayran JF, Doroshow RW, Phillips J, et al: PAGOD syndrome: Eighth case and comparison to animal models of congenital vitamin A deficiency. Am J Med Genet 108(3):229, 2002.
Silengo M, Del Monaco A, Linari A, et al: Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies. Am J Med Genet 101:275, 2001.  [PubMed: 11424145]

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