but it led Ameera to be chromosomally male, despite her
external female genitalia.
We could now finally explain Ameera’s symptoms with
a single diagnosis. With the XY genotype, nephrotic syn-
drome and gonadoblastoma, Ameera showed the classic
signs of Frasier syndrome. It’s a rare condition that affects
about 1 in 100,000 live births.
In most cases, the syndrome shows up as an XY male
with slightly unusual male genitalia who complains of
kidney symptoms.
In girls who haven’t yet had their periods, like Ameera,
the only hint of Frasier syndrome might be high blood
pressure. If it’s not caught early, the condition could lead
to kidney failure and transformation of the tumor to a
cancer.
We removed the mass surgically, and her right ovary
— which turned out to be a partially formed testis —
eventually had to come out too, due to the risk of its cells
turning cancerous.
Treatment of the nephrotic syndrome (namely
through blood pressure measurement and water pills)
and surgery were essential components of her recovery,
which went well.
A SUPPORT SYSTEM
After the operation, we had a longer discussion with
Ameera’s family. At first, they didn’t understand the diag-
nosis, and since she had been raised female, they were
unclear as to how that might change as she matured.
It was extra complicated because Ameera hailed from
a traditional and conservative Middle Eastern family,
where gender roles are strictly defined.
That said, her family was ready to help Ameera
through the process, whatever that might entail. Her
Frasier syndrome didn’t necessarily mean Ameera
would identify as male, female or other, since gender is
self-identified and doesn’t always correlate with biologic
sex. It also didn’t necessarily confer a specific sexual
orientation.
At our suggestion, her family enrolled Ameera in
the hospital’s gender-focused clinic, which sees a wide
variety of patients with similar conditions. That helped
them navigate the landscape of gender identity, which
included providing extensive psychosocial support to
the family, and having conversations around hormonal
therapy and potential surgeries.
For now, Ameera is a happy, healthy girl, and while
she may not choose to identify as a female one day, we’ll
work to keep up the “healthy” part.^ D
Amitha Kalaichandran is a pediatrics resident doctor based in
Canada. The cases described in Vital Signs are real, but names
and certain details have been changed.
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