Endocrine Case Study:
Jane is a 10-year old girl who presents to the pediatric primary care office due to concern regarding her height. Upon evaluation, the provider notes that her height is 48 inches, (fifth percentile); with a weight of 68 lbs, < fifth percentile. The provider discusses Janes’ mother’s concerns. Upon further discussion with Jane’s mother she states that Jane has had occasional visits to the urologist because of a horseshoe kidney, and that she has a heart murmur that was described as innocent. She states that Jane does well in school although she has some social issues including difficulty interacting with other children her age. Jane prefers to play with younger children. When you ask Jane about her height, she becomes somewhat tearful and tells you that she is the shortest girl in her class. Jane’s mother notes no recent illness in the family. Jane was 38 week gestation, NSVD, 7 lbs 4 oz healthy infant at birth. Immunizations are up to date. PMH: Innocent heart mumur, h/o horseshoe kidney, last well visit over a year age. Otherwise she is healthy. FH: noncontributory.
SH: Jane lives with her parents and infant sister. She attends school and is the 5th grade. Meds: None. Allergies: NKA. ROS: negative except for complaints noted in the HPI. On Exam: well, developed, well nourished female child. Tanner I. Wt. 21 kg. Ht 45″, BP 104/70, P 92, RR 22, T 101.7F. Skin: pink, moist, no rashes. HEENT: PERRLA; TM normal, posteriorly rotated ears, small chin.. Neck/Lymph Nodes: supple, no palpable nodes. Lungs/Thorax: CTA bilaterally, (-) shortness of breath, (-) cough. CV: RRR, grade I/VI heart murmur heard LLSB. ABD: soft, nontender, nondistended, (+) BS. Neuro: CN I-XII intact. Assessment: 10- year old female presents to pediatric primary care office due to concern of short stature. Based on the case study:
Please Respond to the Discussion Question with scholarly reference:
1. Discuss potential genetic disorders that can cause short stature?