XY type gonadal dysgenesis-associated anomalies syndrome

This condition, known as XY type gonadal dysgenesis-associated anomalies syndrome, is a very rare association syndrome that has been described in only two sisters. The affected individuals have a 46,XY karyotype, yet they present with features more commonly associated with a female physical appearance. They also have unique facial features, including a short columella and small nares, giving them a 'squashed down' appearance. In addition to the facial differences, affected individuals have cleft lip and palate, preauricular pits, and other physical anomalies such as broad hands and feet and a hypermuscular look. They may also have additional congenital anomalies that affect the heart, kidneys, musculoskeletal system, and skin. Short stature, streak gonads, and mild developmental delays have been noted. The syndrome appears to follow an autosomal recessive inheritance pattern.

Common signs in people with this condition include cleft lip and palate along with preauricular pits. They have unusual facial features due to a short columella and small nares. Other physical findings include broad hands and feet, a hypermuscular appearance, and ectodermal issues such as scalp defects and unusual hair whorl positioning. There may also be cardiac, renal, and musculoskeletal anomalies, along with short stature, streak gonads, and mild developmental delay.

The cause of this syndrome seems to be genetic. People with this condition have a 46,XY karyotype even though their physical traits are different from what is typically expected. It is believed to follow an autosomal recessive pattern. Specific gene mutations have not been identified for this syndrome.

Information about treatment options and management approaches is currently limited for this condition.

Information about prognosis is currently limited for this condition. Due to the rarity of the syndrome, details on long-term outcomes and quality of life are not well documented.

Research into XY type gonadal dysgenesis-associated anomalies syndrome is very limited, as the condition has been reported in only two individuals to date. More studies are needed to better understand the condition and its underlying causes.