We report on five individuals with the following consistent findings: alopecia universalis congenita, XY gonadal dysgenesis and laryngomalacia persisting beyond infancy. The clinical presentation of the XY gonadal dysgenesis was ambiguous genitalia, appearing as male or, more commonly, female. In one affected individual müllerian structures were present. The affected individuals come from two unrelated families. While in the first family the two affected individuals come from two related sibships, three affected individuals come from one sibship in the second family. Parents of affected individuals in the three sibships are first cousins. To our knowledge, this association has not been reported before. We speculate that the mode of inheritance of this disorder is autosomal recessive with probable sex limitation.
- Alopecia universalis congenita
- Gonadal dysgenesis
- Short stature
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health