Case 1:
A 11-year-old girl presents to your clinic for evaluation of short stature. Parents report that
she has always been the shortest girl in her class, but they have become concerned because
the patient's 8-year-old sister is now the same height as she is. The patient has not yet
attained menarche and her mother reports no breast development. She has been well with
no chronic medical problems, no hospitalizations, and no surgeries. She lives with her
mother, father, and sister and she is currently a student in the fifth grade with excellent
school performance. Her mother is 173 cm. She had menarche at age 12. The patient's
father is 185 cm. He started shaving at age 15. There is no family history of any medical
problems.
Exam: Height 120 cm (<3%), weight 22 kg (slightly <3%)
Tanner 1 breasts.
Tanner 1 pubic hair.
Her growth chart is reviewed which demonstrates her growth velocity of 3 cm per year.
Bone age 9 years and 6 months. CBC, ESR, TFT's, celiac screen, Urea and serum
electrolytes are normal.
Q1: What are possible clinical features in this girl?
Q2: What is your possible diagnosis and how do you confirm it?
Q3: What is your management plan?
Case 2:
A 12-year-old boy presents to your clinic for evaluation of short stature. Parents report that
he has always been the shortest boy in his class. He born at term after an uneventful
pregnancy with a birth weight of 2800 g. He has been well with no chronic medical
problems, no hospitalizations, and no surgeries. He lives with his mother, father, and sister
and he is currently a student in the sixth grade with very good school performance. His
mother is 168 cm. She had delayed menarche at age 15.
The patient's father is 175 cm. He started shaving at age 17 and he has history pf SS when
he was at preparatory school.
There is no family history of any medical problems.
Exam: Height 132 cm (<3%), weight 30 kg (slightly > 3%)
Tanner 1 testis 3 ml volume
Tanner 1 pubic hair and Axillary hair.
Bone age 9 years.
Q1: How do you calculate his MPH?
Q2: Which laboratory tests do you think are needed to refine the diagnosis?
Q3: What is your possible diagnosis?
Q4: What is your management plan?
Case 3:
An eight-year-old girl presents to your clinic for evaluation of short stature. Her parents
reported 3years of growth arrest, during which she continued to wear the same size of
clothing and fell well below the third percentile for height. Previous growth velocity had
been normal. she born at term after an uneventful pregnancy with a birth weight of 3700 g.
she has been well with no chronic medical problems, no hospitalizations, and no surgeries.
she lives with her mother, father, and sister and he is currently a student in the third grade
with very good school performance
Breast development began at seven- and 6-months years of age with scant pubic hair that
developed shortly thereafter.
Her mother is 170 cm. She had menarche at age 12. The patient's father is 175 cm. He
started shaving at age 15. There is no family history of any medical problems.
Examination she is nondysmorphic has proportionate SS no swelling, scoliosis or features
of Turner syndrome
Height 113 cm (<3%), weight 19 kg (on 3%)
Tanner 2 breasts. Tanner 2 pubic hair.
Investigations revealed CBC, ESR, celiac screen, Urea and serum electrolytes are normal.
TSH level of 1.3 mIU/L (normal range 0.5 mIU/L to 5 mIU/L) and fT4) 8.2 pmol/L
(normal range 8.7 pmol/L to 16 pmol/L).
IGF1-1 was 107 μg/L (88 μg/L to 474 μg/L)
Bone age: 4 years
Further testing revealed the diagnosis.
Growth hormone (GH) stimulation testing with insulin and clonidine revealed peak GH
levels of only 2.4 μg/L and 1.7 μg/L, respectively (normal ≥5.6 μg/L).
LH and FSH levels were only 1 IU/L and 5 IU/L, respectively, a gonadotropin-releasing
hormone stimulation test demonstrated a peak luteinizing hormone level of 11 IU/L,
confirming gonadotropin-dependent (central) puberty.
Cortisol and prolactin levels at 08:00 were normal.
She was diagnosed with GH deficiency (GHD), central precocious puberty and central
hypothyroidism.
Q1: Mention one important investigation needed?
Q2: What is your plan of management?