Case 2: Delayed Puberty in a 15-year-old Girl

Helen K. Hughes; Susan Mendley; David Cooke; Laura Malone; Katherine Beckwith-Fickas

doi:10.1542/pir.2018-0275

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Helen K. Hughes, MD, MPH*
Susan Mendley, MD†
David Cooke, MD*
Laura Malone, MD‡
Katherine Beckwith-Fickas, MD, MPH§

^*Department of Pediatrics, The Johns Hopkins University School of Medicine, Baltimore, MD
^†National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD
^‡University of Maryland Medical Center, Baltimore, MD
^§Hackensack Meridian Children’s Health at K. Hovnanian Children’s Hospital, Neptune City, NJ

AUTHOR DISCLOSURE
Drs Hughes, Mendley, Cooke, Malone, and Beckwith-Fickas have disclosed no financial relationships relevant to this article. This commentary does not contain a discussion of an unapproved/investigative use of a commercial product/device.

Presentation

A 15-year-old girl with a history of renal transplant at age 18 months due to presumed hemolytic uremic syndrome (HUS) presents for routine health supervision care. She is doing well overall. She complains of intermittent constipation. When asked about menarche, her mother states that the patient has not yet had a period and notes that she has had minimal breast development.

Regarding her medical history, she was born at term after a normal prenatal course, uncomplicated delivery, and nursery course. Physical examination findings at birth were normal, including normal external female genitalia. At 5 months of age she developed an acute diarrheal illness with fever and vomiting and was hospitalized for 1 week. One month later, at 6 months of age, she was readmitted with renal failure, anemia, and hypertension and was clinically diagnosed as having HUS. At 12 months of age she underwent bilateral nephrectomies for end-stage renal disease and malignant hypertension. At 18 months of age she received a living donor kidney transplant, which has functioned well for 15 years.

There was no known family history of kidney disease, menstrual abnormalities, infertility, polycystic ovary syndrome, premature ovarian failure, thyroid disease, or other autoimmune disease. Her mother reports that both parents had normal pubertal timing, with her mother having menarche at age 12 years. Midparental height is at the 25th percentile.

At the time of her 15-year health supervision visit, her home medications include tacrolimus, mycophenolate mofetil, low-dose alternate-day prednisone (2 mg), lisinopril, and cholecalciferol.

On physical examination her height is 5’4” (55th percentile), weight is 55.2 kg (60th percentile), and BMI is 20.8 (59th percentile). …