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
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
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
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,
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