A 17-year 3-month-old male presents with concern for short stature. Patient is short, appears well-nourished, has no dysmorphic features, is normotensive, and noted to be prepubertal. Past medical history: Patient has been well and has not had any chronic illnesses nor has he been on any chronic medications. Parents report that he has always been among the shorter children at school. Birth history: Patient was born at full term by normal vaginal delivery. His birth weight was 2.5 kg and his birth length is not available. Developmental history: Parents report normal developmental milestones. No history of delayed dentition. Diet history: Patient consumes about 1800 kcal/day. Family history: Patient lives with his parents and younger brother. No reported medical or hormonal disorders in the immediate or extended family. Social history: Patient is studying in twelfth grade and reported good grades. Physical examination: Patient is noted to be 147 cm tall (–3.5 SD below mean) and 40 kg (–1.88 SD below mean). No evidence of goiter. Patient is noted to be tanner 1 for pubic hair with tanner 1 prepubertal testicles. Other systemic exam is within normal limits. Labs
• Normal CBC, electrolytes, S. calcium and phosphorus, renal function, liver function and urinalysis
• AM cortisol noted to be 4.6 mg/dL, stimulated cortisol level 15 mg/dL
• FSH 0.51 mIU/mL, LH 0.10 mIU/mL, Testosterone <2.5 ng/dL
• Prolactin 11.44 ng/mL
• TSH 0.019 mcIU/L (0.6–5.5), fT4 0.6 ng/dL (0.8–1.7)
• Testosterone primed GH stimulation testing with clonidine noting peak GH level below 3 ng/mL.
What are the changes expected to occur during puberty?
Medicine
• Appearance of secondary sexual characteristics In girls—appearance of breast bud (thelarche) is usually the first sign of puberty, followed by the appearance of pubic hair (pubarche) 6–12 months later, and accompanied by growth spurt associated with puberty, appearance of axillary hair and, acne In boys—the pubertal changes include growth of the testes (≥4 mL in volume or 2.5 cm longitudinal measurement), followed by thinning of the scrotum, pigmentation of the scrotum, growth of the penis, pubarche, acceleration of growth, breaking of voice, appearance of axillary hair, facial hair, acne
• Pubertal growth spurt—In girls, peak height velocity occurs at breast stage II– III and in boys maximal growth rate occurs at genital stage IV–V
• Maturation of reproductive capacity manifested by menarche (which usually occurs about 2–2.5 years after puberty initiation) in females and spermaturia in males. Premature adrenarche is elevation of DHEAS levels (which is derived from adrenal glands) before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action, including adult-type body odor, oily skin and hair and/or pubic hair growth.
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