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Participant 026

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Female, age 14, with overgrowth, increased androgen secretion at an early age (premature adrenarche), and heavy and prolonged menstrual periods (menorrhagia)

Date of Report

Jul 13, 2017


When the patient was 20 months old, her mother noticed that she was large for her age. Since then, her height and weight have continued to increase despite regular physical activity and a healthy diet (overgrowth).

At age 8, she started to have signs of increased androgen secretion (premature adrenarche) and began her menstrual periods at age 10. After a year, the bleeding became heavy and she started having menstrual cramps. A few months later, she had continued bleeding for 3 weeks, which resulted in anemia. She needed to take a double dose of Levora to stop the bleeding. Her hematologic workup, adrenal gland CT scans, and abdominal CT scans have been normal. Currently she takes Zovia to manage the bleeding.

Several relatives on her mother’s side also have heavy periods. On her father’s side, several male relatives had early facial hair growth and are over 6 feet tall.

Symptoms / Signs
  • Accelerated skeletal maturation
  • Pain (abdominal and pelvic)
  • Low insulin-like growth factor 1 in blood
  • Decreased ability to absorb and transport fats (hypobetalipoproteinemia)
  • Increased androgen secretion at an early age (premature adrenarche)
  • Increased androgen levels
  • Increased hemoglobin A1C level
  • Dark patches of thick, velvety skin (acanthosis nigricans)
  • Increased body weight
  • Obesity
  • Anxiety
  • Panic disorder
  • Irritability
  • Depression
  • Fatigue
  • Overgrowth
  • Large head size (macrocephaly)
  • Coarse facial features
  • Upper edge of ear folded more than normal (overfolded helix)
  • Attached earlobe
  • Extension of lower jaw (mandibular prognathia)
  • Pink birthmark on nape of neck (nevus flammeus nuchae)
  • Asthma
  • Large hands
  • Curved pinky finger (clinodactyly of the 5th finger)
  • Inability to write coherently (dysgraphia)
  • Enlarged liver (hepatomegaly)
  • Abnormality of the uterus
  • Menstrual period with heavy and prolonged bleeding (menorrhagia)
  • Enlarged ovaries with cysts (polycystic ovaries)
  • Constipation
Current Treatments
  • Albuterol- asthma
  • Ativan- anxiety
  • Losartan- high blood pressure
  • Metformin- blood sugar
  • Singulair- allergies
  • Zoloft- depression
  • Zovia- menstrual bleeding
Prior Treatments
  • Epiduo- acne
  • Iron- anemia
  • Levora, Ocella, Sprintec- menstrual bleeding
Considered treatments
Previously Considered Diagnoses
  • Beckwith-Wiedemann syndrome
  • Chromosomal disorder
  • Microdeletion/duplication syndrome
  • Prader-Willi syndrome
  • Simpson-Golabi-Behmel syndrome
  • Sotos syndrome
  • Weaver syndrome
Other Photographs
Genetic Variants of Interest

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