and assessment of auto-immune or infammatory bowel conditions. Excessive exercise or restrictive food behavior may prompt biochemical testing and psychological counseling. Finally, elevated FSH levels may require a karyotype.

Treatment

Treatments for delayed puberty aim to optimize age-appropriate pubertal development, height and peak bone mass. A signi cant proportion of girls with CDGP can be managed expectantly, given that pubertal progression will occur with time. However, treatment to induce puberty maybe initiated to reduce psychosocial dif - culties and anxiety related to growth and body habitus when compared to peers. In other words, treatment is aimed at achieving sexual maturation similar to peers. Generally, a very low dose of estrogen is initiated, which is gradually increased over a 3–4-year period until maintenance dosing is achieved. The target E2 level in such girls is between 50 and 150 pg/mL. Most experts agree that girls with CDGP or transient hypogonadotropic hypogonadism can be treated with an initial 4–6-month course of estrogen therapy, followed by discontinuation and reassessment of pubertal progression. Girls with hypergonadotropic hypogonadism or permanent hypogonadotropic hypogonadism require cyclic progestin therapy along with estrogen therapy to allow endometrial cycling. Common estrogen formulations include ethinyl estradiol, which is a component of oral contraceptive pills (OCPs), oral or transdermal 17β estradiol, and conjugated equine estrogens. Some adolescents may prefer OCPs given its convenience and use among other peers. However, OCPs are rarely used for maintenance therapy. OCPs may also have a higher risk of thromboembolism. Following induction of puberty, most patients can continue oral or transdermal estrogen therapy with cyclic progestin or may use combined estrogen and progestin compounds for maintenance therapy. Unfortunately, randomized controlled trials comparing various estrogen formulations for the treatment of delayed puberty are currently lacking. Novel treatments for delayed puberty such as kisspeptin, gonadotropins, GnRH, and GnRH-agonists are still considered investigational.

Discussion

Delayed puberty can be distressing for young girls and their parents. Certain forms of delayed puberty such as CDGP can occur as a variation of normal pubertal development. Although CDGP represents the most common form of delayed puberty, clinicians should make a diligent effort to rule out other causes of delayed puberty with meticulous history and physical examination. A basic initial evaluation of

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Chapter 4

Primary Amenorrhea

Alexis Melnick

Case

A 16-year-old G0 is brought to her pediatrician by her mother who is concerned that she has not yet started menstruating. Both of her older sisters achieved menarche at 13 and her mother at 12. She reports breast development starting at the age of 11 and states that she has not needed to buy new bras for the past year—she currently wears a C-cup. She shaves her legs but has not yet needed to shave her underarms. She is on her high school soccer team and enjoys running during the off season. She denies any recent increase in physical activity or changes in weight or diet. She also denies any history of sexual activity.

Her past medical history and past surgical history are unremarkable other than tonsillectomy at age 9. She takes occasional Tylenol as needed and does not take any medications regularly. Her family history is signi cant for hypothyroidism in her mother and maternal aunt, and prostate cancer in her paternal grandfather. She is a non-smoker and denies alcohol and illicit drug use.

Physical exam reveals normal vital signs. Height is 5′3″ and BMI is 22 kg/m2. A urine pregnancy test done in the of ce is negative. Breast development is Tanner Stage IV and pubic hair is Tanner Stage II. Examination of the thyroid reveals no enlargement or masses. Pelvic exam is signi cant for normal external female genitalia. The patient is unable to tolerate a speculum exam but on bimanual examination, no cervix is palpated and the vagina appears to be short. The patient is then referred for an abdominal ultrasound, which reveals absence of the uterus. Bloodwork results are signi cant for normal FSH, LH, TSH, and prolactin levels. Serum estrogen levels are on the low end of normal and testosterone levels are noted

A. Melnick (*)

Reproductive Medicine and Ob/Gyn, The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Medical College of Cornell University, New York, NY, USA e-mail: alm2036@med.cornell.edu

P. H. Chung, Z. Rosenwaks (eds.), Problem-Focused Reproductive Endocrinology and Infertility, Contemporary Endocrinology, https://doi.org/10.1007/978-3-031-19443-6_4

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