background participants

Participant 026


overgrowth

On this page, you will find information about a UDN participant. 

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

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

Date of Report

Jul 13, 2017

Description

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
Contact

If this participant sounds like you or someone you know, please contact us

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.