Analysis of History, Physical Exam, and Lab of Patient with McCune-Albright Syndrome - Assignment Example

Case: Esperanza is a 6 year old who has been a patient of yours since birth. She s that "she has boobies." Since you have known Esperanza all her life you know that she has a benign personal and family history. But just to be safe you decide to review elements that relate to her concern. Results of Esperanza's workup: FSH 4.1 mlU/ml [postpubertal norm is 2-10 IU/l in the 1st phase and 10-30 IU/l in ovulation pick] LH 4 mlU/ml [postpubertal norm is 5-20 IU/l in the 1st phase and 30-90 IU/l in the 2nd phase] Estradiol 26 pg/ml [norm for 6-7 years old girls - 7-14 pg/ml] T4 RIA 9.7 mcg/dl [norm is 4.9-11.4 mcg/dl] TSH .8 mIU/ml [norm is 0.35 to 5.50 IU/l] Bone age studies reveal AP view of left hand were compared with standardized values of Greulick & Pyle. Chronological age of this child is 6 years 3 months. Bone age is 11 years 5 months with a SD of +/- 8 mo. Note presence of the sesamoid of the thumb. Abdominal ultrasound: unremarkable ultrasound Bone scan: Results not yet available. Note: During your evaluation process, Esperanza developed a stress fracture of the right femoral neck, which was subsequently pinned (all felt to be due to fibrous dysplasia). Make sure this occurrence fits with your final diagnosis. Questions & Answers: 7a. Given Esperanza's history/physical exam/lab, which of the following categories best describe what is going on with her Choose one: 1. Isosexual or heterosexual puberty 2. Central precocious or peripheral precocious puberty Accordingly to clinical signs, anamnesis and data of lab analysis Esperanza's health condition could be described as incomplete isosexual precocity. Because of character of clinical changes the supposition about gonadotropin releasing hormone (GnRH) independent mechanisms of pathogenesis which is caharacteristic for peripheral precocious puberty. 7bi. If Esperanza had/has advanced bone age, elevated levels of FSH/LH and pubertal levels of estradiol, what items would be you in your differential The differential is central precocious puberty, which could be idiopathic, related to intracranial tumors (e.g. hamartoma, craniopharyngioma, etc), hypothyroidism or to post-treatment effects for congenital adrenal hyperplasia (Reindollar & Lalvani, 2002). Because of advanced bone age the supposition about benignant premature thelarche should be declined. Furthermore such symptoms as accelerated skeletal maturation and early fusion of bone epiphyses could argue for central precocious puberty. Nevertheless other conditions resulting in peripheral precocious puberty, e.g. McCune-Albright syndrome should be discussed also. 7bii. What additional test/procedures would you order The program of diagnostic tests could include: Lab test for prolactin level LH and FSH test after infusing GnRH (e.g. Factrel) Head MRI or CT 7ci. If Esperanza were to have prepubertal levels of FSH/LH and an increased estradiol, what would be in your differential If levels of FSH/LH are usual for prepubertal age and there are no response to GnRH loading than increased level of estradiol could be explained by adrenal hyperplasia, ovarian cysts, iatrogenic influences and some other endocrine disorders, e.g. McCune-Albright's syndrome, which could be characterized by autonomous hyperproduction of estrogens. In other words differential diagnosis will be conducted between different types of gonadotropic independent precocious puberty. 7cii. What test or tests would you order under these circumstances Because of huge variability of conditions resulting in premature thelarche there could be recommended following tests: Ultrasound examination of pelvic organs (for excluding ovarian cysts) 17-OH serum progesterone level including test with ACTH stimulation (to exclude congenital adrenal hyperplasia) LH and FSH test after infusing GnRH (e.g. Factrel) Thyroid hormones levels Growth hormone test ACTH test Dexamethasone suppression test Radiography of bones (could be helpful for determining accelerated skeletal maturation as well as for excluding osseous polyostotic fibrous dysplasia which is characteristic for McCune-Albright syndrome) Oesophago-gastroscopy (for excluding Peutz-Jeghers syndrome) Genetic tests Vaginal examination Liver function tests including transaminases and billirubin tests Calcium and phosphorus in serum 7d. If Esperanza was to have prepubertal levels of FSH, LH, estradiol and a bone age compatible with her chronological age what would be your diagnosis This condition could be described as isolated premature thelarche. This is benignant self-limiting condition, which does not require special treatment. In contrast to the conditions mentioned above there are no significant changes in the dynamics of growth development, and changes of areola zone and breast tissue are minimal. 8a. Given all the information you have on Esperanza, what is your preferred diagnosis It is McCune-Albright syndrome, which is characterized with pathognomic triad: "caf au lait" skin pigmentation, polyostotic fibrous dysplasia, and autonomous endocrine hyperfunction (Boston, 2004; Parker, 2002). Esperanza has only two last symptoms that is enough for verifying diagnosis. 8b. Are there any follow up tests you want to do on her now that you have a diagnosis There are several tests, which could be helpful in differentials of McCune-Albright syndrome (Boston, 2004). These tests include GnRH stimulating, dexamethasone stimulating tests as well as a panel of biochemical tests and genetic tests. 8c. Are there any referral you would like to make Pediatric endocrine consultation could be recommended. Further referrals could include also consultation with pediatric orthopedic surgeon. 9a. Are there any special dietary considerations in Esperanza's case There are no special diet recommendations for patients with McCune-Albright syndrome (Boston, 2004; Radovick & Macgillivray, 2003; Parker, 2002). Nevertheless, assuming recent accident with femoral fracture there is expedient to enrich diet with foods with high content of calcium (e.g. dairy products). 9b What about activity limitations for Esperanza Because she has fibrous dysplasia weakening bones to stress fractures there is recommended to limited vigorous physical activities related to contact sports. 9c. What complications/concerns would you talk to Esperanza's parents about Her parents should be aware about such complications of McCune-Albright syndrome as psychological problems related to precocious sexual maturation, risk of pathological fractures, hyperthyreoidism and developing other endocrine syndromes (e.g. Cushing's and acromegaly). In rare cases bone fibrous dysplasia could result in affecting sight and hearing. Ovarian dysfunction could result in infertility and occurring menorrhages which are risky for iron deficiency anemia. Esperanza's parents should also be informed about the adverse effects of medicines recommended for her treatment and have ability to make informed choice between different alternatives of treatment. Nevertheless they should be informed that the prognosis for life is good and that the most cases do not require surgical interventions. 9d. What other social concerns would you address Precocious sexual maturation and premature puberty could have significant psychological and social effect on young girl. These effects include hish risk of early pregnancy, risk of delinquent behavior, alcohol and drug abuse and even suicidal attempts. Active participation of child in social life could prevent many of these conditions (Parker, 2002). 10. How does your training as an Osteopath physician contribute to your ability to care for Esperanza Holistic approach to diagnosis and treatment is a distinct of osteopathy versa traditional medicine (McKone & Podmore, 2001). Osteopathic techniques (e.g. osteopathic manipulative treatment) could improve somatic conditions of patient and optimize her interrelations with environment, particularly prevent complications related to fibrous osseous dysplasia. References: 1. Boston B. (2004) McCune-Albright syndrome. Available at the web-site: http://www.emedicine.com/ped/topic1386.htm 2. Kaplowitz P. (2003) Precocious puberty. Available at the web-site: http://www.emedicine.com/ped/topic1882.htm 3. McKone W. & Podmore W. (2001) Osteopathic Medicine: Philosophy, Principles and Practice. Blackwell Publishers; 1st edition 260 p. 4. Parker J. (2002) The Official Parent's Sourcebook on McCune-Albright Syndrome. Icon Health Publications. 152 p. 5. Radovick S. & Macgillivray M. (2003) Pediatric Endocrinology: A Practical Clinical Guide (Contemporary Endocrinology). Humana Press 600 p. 6. Reindollar R. & Lalwani S. (2002) Abnormalities of female pubertal development. Chapter 2. 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