XX‐agonadism in a fetus with multiple congenital anomalies

Abstract

We report on an 18-week gestation fetus with 46,XX karyotype, gonadal agenesis, meningo-encephalocele, spina bifida, omphalocele, webbing of right upper limb, deformed right clavicle and right sided ribs, absent interventricular septum, hypoplastic aorta, hypoplastic spleen, and single umbilical artery. This case is similar to the one previously described by Kennerknecht et al. in 1997 and may represent a unique syndrome.

Perspectives in Pediatric Pathology, Chapter 5. Gonadal Dysgenesis

“…No defect in the SRY gene has been observed as the cause of this syndrome [10]. Agonadism may be associated with other syndromes, such as PAGOD (acronym of hypoplasia of the lung and pulmonary artery, agonadism, omphalocele/diaphragmatic defect, dextrocardia) [11][12][13]; Kennerknecht syndrome [14,15]; Seckel syndrome [16]; and CHARGE association [17].…”