When Jill was 4, her pediatrician discovered she didn’t have a sense of smell. Her doctor wasn’t worried about it, and not being able to smell didn’t stop her from doing anything she wanted to do.
She started playing soccer at age 6 and added lacrosse in elementary school. As a high school sophomore, she became a cheerleader, and she also plays the drums, guitar and piano in addition to acting and singing in school musicals.
But as her peers went through puberty, she did not. At 15, she was 5 feet, 3 inches, which was in the normal range. Still, her pediatrician advised her to consult with an endocrinologist to determine if something was amiss.
In August 2016, she had an appointment at Children’s Hospital of Philadelphia with endocrinologist Maria Vogiatzi, MD, Director of the Adrenal and Puberty Center.
Initial tests inconclusive
Dr. Vogiatzi ordered several tests, including an MRI of Jill’s brain to check if her pituitary or hypothalamus looked abnormal, but unfortunately nothing was conclusive. An ultrasound of her pelvic area showed everything was in order.
Dr. Vogiatzi advised her to come back in six months to give puberty a chance to start on its own. When it hadn’t, Dr. Vogiatzi referred Jill to Louise Pyle, MD, PhD, and Emma Bedoukian, MS, of the Differences of Sexual Development and Endogenetics Clinic, within the Roberts Individualized Medical Genetics Center (RIMGC). They ordered genetic testing.
A diagnosis: Kallmann syndrome
The genetic testing results confirmed their and Dr. Vogiatzi’s suspicions, based on Jill’s missing sense of smell; she had Kallmann syndrome.
More About Kallman Syndrome
She had a mutation in the FGFR1 gene. Kallmann syndrome is a genetic condition in which the hypothalamus, a gland in the brain, does not produce certain hormones that tell the pituitary gland to release more hormones to tell the ovaries to begin puberty. FGFR1 mutations are the cause of about 10 percent of Kallman syndrome cases.
Some people with Kallmann syndrome also have complications such a cleft lip or palate, absence of a kidney, shortened digits, deafness, and abnormal eye movement. Jill didn’t have those symptoms.
People with FGFR1 mutations may have any range of puberty from normal to start-and-stall puberty (as was the case with Jill) to no hint of sexual development, which is called complete gonadotropin-releasing hormone deficiency.
The good news is that some aspects of Kallmann syndrome are treatable with medications that take the place of the missing hormones. The genetic testing allowed Dr. Vogiatzi to tailor Jill’s treatment.
Jill began hormone-replacement therapy, and it has worked. She grew 2 inches and began puberty. Vogiatzi says the chances are strong that Jill will be able to have children in the future, with the help of medication.
The treatment certainly isn’t slowing Jill down, either.
As a high school junior, she has continued her sports and music activities plus volunteered at Princeton Special Sports, serve as a peer leader at her school, worked in an ice cream shop and organized an annual Alex’s Lemonade Stand to raise money for pediatric cancer research.