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Savannah Clemons: Home

Problem Based Learning guide for 2nd Year medical students.


The Case



Savannah Clemons is a 14-year-old female who presents with her mother to her primary care physician with a chief complaint of no menstrual period. She states, “All of my friends have had their periods for a while now and I’ve still not had mine.”  Savannah noted breast development starting at age 11. Her mother’s menarche occurred at age 13. The mother is not concerned, but states that her daughter has been very anxious and stressed about this issue for the past 6 months, so she decided to bring her in to ease her anxiety and make sure there were no issues with her health.

Past Surgical History: Savannah has a history of bilateral inguinal hernias repaired at 11 months of age.

Past medical history is unremarkable.

Social History: Savannah lives at home with her mother and father, who are married. She has 3 siblings: 1 brother and 2 sisters. Her family attends a local Church of Christ congregation near their home in a small town right outside of the city of Louisville. They are very active in the church and Savannah often teaches and helps with the toddler class. Her family is very conservative in their religious beliefs and she agrees with them on most issues. She is in the 8th grade and attends a small private school, which she really enjoys and she is doing fairly well. She expresses some concerns about switching from a co-ed school to an all-girl school next year and also is worried about having a more difficult course load, but is reassured since she has many friends attending the same school. She is not sexually active, does not drink, smoke, or use recreational drugs.

Family History: Father’s family history is noncontributory. Her mother reveals that she has a sister who had surgery on inguinal masses and had inguinal hernias during early adolescence. She also stated that this sister didn’t have a period around the normal time, but isn’t sure if she started her period later in adolescence. 

Physical Examination:

VS: HR 65 bpm, BP 118/72, RR 14,  Ht 174.3cm (98%ile), Wt 71.3kg (94%ile)

General: alert and oriented to person, place, time

HEENT: normocephalic, red reflex present, extraocular movements intact, TM intact, nares clear, oropharynx clear, no lymphadenopathy

Respiratory:  clear to auscultation bilaterally, no crackles, wheezes, or rhonchi


Gastrointestinal:  positive bowel sounds, soft, nontender

Musculoskeletal: UE and LE – FAROM w/o pain/TTP/erythema/deformity.

Genitourinary: normal external female genitalia without clitoromegaly; a short blind ending vagina present along with small, bilateral inguinal masses present

Neurologic: CN 2-12 intact, normal reflexes, normal sensation, touch, negative Romberg

Psychiatric: slightly anxious, denies sadness, loss of interest/appetite, poor concentration, and SI

Sexual Development: breasts are developed, SMR IV, but lacks any axillary or pubic hair

Diagnostic testing:


Initial Tests:

  • Total Testosterone:  112 ng/dL (reference range for 14-17 yo female <40 ng/dL)
  • DHT: 83 ng/dL (reference range for female 5-46 ng/dL)
  • LH:  13.50 mIU/mL (reference range for 14-17 yo female 0.04-10.80 mIU/mL)
  • FSH:  31.81 mIU/mL (reference range for 14-17 yo female 0.64-20.98 mIU/mL)

Reflexive Tests:

  • DHEA-S: 108 mcg/dL (reference range for 14-17 yo female 37-307 mcg/dL)
  • Estradiol: 110 pg/mL (reference range for 12-14 yo female <143)
  • Anti-Mullerian hormone: 36 ng/mL (reference range for 14-19 yo female 1.28-16.37 ng/mL)
  • Androstenedione: 68 ng/dL (reference range for 14-17 yo female 22-225 ng/dL)
  • 17-hydroxyprogesterone: 230 ng/dL (reference range for 14-17 yo female 16-283 ng/dL)
  • hCG stimulation test results: normal rise of T and DHT after hCG administration (T/DHT ratio <12)

Genetic Tests:

  • Chromosomal analysis on blood – diploid 46 XY karyotype
  • AR gene: positive for AR gene mutation

A transabdominal ultrasound was ordered and results shown below. The ultrasound showed no uterus or fallopian tubes but noted the presence of testes in the inguinal canals.

Clemons 1

A MRI was ordered and the results shown below mimic the results from the ultrasound. 

Clemons MRI

Additional course:

Based on the series of tests performed and their results, the diagnosis of complete androgen insensitivity syndrome was made. Since this is the first case of CAIS to present to his office in about 10 years, the physician was hesitant to give the diagnosis to Savannah and her mother. Over the phone, the physician told the mother, “Hi Mrs. Clemons, its Dr. Mandy. I just received the results from the radiologist regarding Savannah’s MRI and I think it would be best for us to speak in person about her condition. Before you start to worry, she will be fine, but we need to focus on a few aspects of her health.”

At her follow-up visit, Dr. Mandy informed Savannah and her mother of the diagnosis and proceeded to explain, “Savannah, you have a very interesting condition which is by no means life threatening or harmful as long as we take the right precautions and make sure you are on board with our decisions for treatment. At the start of conception, you were given the genetic blueprint of a male, an X and a Y chromosome, but part of this blueprint also had a piece that prevented you from developing like a male. I know it seems very confusing right now and we want to make sure you have a group of healthcare professionals to support you through this process of understanding management and treatment.”

Savannah and her mother, completely dumbfounded, began to weep uncontrollably. The mother sobbed, “We can’t tell anyone about this. What will our friends at church think? What will our family think when they find out you are really a boy?” Dr. Mandy explained to the Savannah and her mother that genetic sex is just one aspect of Savannah’s life, her gender identity hasn’t changed. Savannah muttered back, “I don’t care. I’ll never be able to have a husband or children and the church will kick me out. And as soon as my high school finds out I’m not really a girl, they won’t let me in either! Does this mean I’m gay? I like boys and I don’t want to stop liking boys. This isn’t fair!!”

Dr. Mandy, unsure of how to address all of Savannah and her mother’s concerns, discussed the importance of support groups, particularly AIS-DSD, and psychological counseling.

He also mentioned the medical recommendations for CAIS, including a plan for a gonadectomy and administration of estrogens. Savannah immediately interjected, “Why do I have to have surgery? I don’t want surgery and I don’t want to take medicine.” Dr. Mandy addressed her question, “It is important for us to remove the testes now to prevent gonadoblastoma, a type of cancer that could happen if the gonads remain in the inguinal canal. I know it’s scary to think about having surgery, but this will help you in the long run. Once the testes are removed, we have to give you estrogen replacement since your body can no longer make this hormone when your gonads are removed. This treatment is all preventative and will help keep you healthy.” Dr. Mandy encouraged psychological therapy including individual meetings with a therapist as well as family counseling. He advised follow-up visits every 3 months to ensure her treatment plan is progressing well.

Savannah’s mother, who diverted the attention to herself, asked, “I plan to have more children in the future, does this mean they could be born just like Savannah and grow up without knowing they are really a boy? Does this mean my other two daughters might really be boys?” Dr. Mandy addressed these questions, “There is a chance that future children could have this condition, although the odds are unlikely.”

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Ansley Stuart
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