Alopecia Universalis Congenita, XY Gonadal Dysgenesis and Laryngomalacia is a rare and complex congenital condition, reported to date in only five individuals from two families. Incidentally, both these families are from Jordan [See: Epidemiology > Jordan].
El-Shanti et al. (2003) reported on five patients from two unrelated Jordanian families who presented with symptoms of alopecia universalis congenital, gonadal dysgenesis, and laryngomalacia. All the patients were born to consanguineous parents and were found to have a 46XY karyotype with positive SRY. The first family had two affected members (9.5 and 7-years old) in two different sibships. At birth, both were noted to have an absence of scalp hair, eyebrows, and eyelashes. The elder of these had ambiguous genitalia, but was assigned a female gender based on the appearance of labial adhesions with an enlarged clitoris. Pelvic US at age 1-year showed a uterus and fallopian tubes. The younger one was assigned a male gender, since he presented with a short phallus with chordee, an empty scrotum, and no evidence of mullerian structures on US. Both patients had inspiratory stridor, which was attributed to laryngomalacia. In the first patient, severe growth retardation was seen. Both the patients had elevated LH and FSH levels, undetectable testosterone levels, and normal thyroid function tests. The second family had three affected siblings, all of whom had ambiguous genitalia, and were assigned female genders. The two elder affected siblings died at the age of 7-years and 1-week, respectively. Both had absence of eyebrows, eyelashes, or scalp hair at birth, and inspiratory stridor. The elder sibling had recurrent urinary tract infections, and unexplained normocytic, normochromic anemia, and thrombocytopenia. She died during the take down of the tracheostomy. The second affected sibling was noted to also have ileal atresia, which was operated upon. The patient died from surgical complications. The youngest affected member in this family was a 20-month old girl. She was born with scalp hair, which fell out gradually. She also had faint eyebrows and eyelashes. Although she had inspiratory stridor, it was noticeable only during periods of excessive crying or infection. Like her eldest affected sister, she also had elevated LH and FSH levels, and undetectable testosterone levels. El-Shanti et al. (2003) proposed that this constellation of findings was a novel phenotype not reported before. They also proposed a probable autosomal recessive mode of inheritance for this condition, keeping in mind the presence of normal, consanguineous parents, and multiple affected sibs in a single sibship. X-linked inheritance was ruled out, since there was no family history of the condition, and also because the two related sibships in the first family were not related by a female member.