History and physical examination Immature secondary sexual characteristics FSH, PRL Asynchronous development (breasts >pubic hair) Androgen Insensitivity High FSH Normal Normal Normal TSH Abnormal Abnormal High TSH Low or normal FSH Mature secondary sexual characteristics  Distal genital tract   obstruction  Mlerian agenesis High PRL  Pituitary function testing  Sellar X-ray  46,XX gonadal dysgenesis  Premature  ovarian failure  45,XX or 46,XY  Mosaic gonadal dysgenesis  Constitutional  delay  Isolated gonadotropin deficiency  Malnutrition  Chronic illness  Hypopituritarism  CNS tumor
Figure 29.8 Flow diagram for the evaluation of delayed or interrupted pubertal development, including primary amenorrhea, in phenotypic girls. Girls with asynchronous development often present because of failure to menstruate. FSH, follicle-stimulating hormone; PRL, prolactin; T4, thyroxine; TSH, thyroid-stimulating hormone; CNS, central nervous system; MRI, magnetic resonance imaging; CT, computed tomography. (From Rebar RW. Normal and abnormal sexual differentiation and pubertal development. In: Moore TR, Reiter RC, Rebar RW, et al., eds. Gynecology and obstetrics: a longitudinal approach. New York: Churchill Livingstone, 1993:97–133, with permission.) genes that encode for transcription factors, are essential for proper development of the m¨ullerian tract in the embryonic period, and HOXA 13 is altered in hand–foot–genital syndrome (31). WNT4 may be involved in uterine development, as a WNT4 mutation was described in cases involving a Mayer-Rokitansky-K¨uster-Hauser-like syndrome with hyperandrogenism (32).
The most common single anatomic disorder of puberty is the imperforate hymen, which prevents the passage of endometrial tissue and blood. These products can accumulate in the vagina (hydrocolpos) or uterus (hydrometrocolpos) and result in a bulging hymen that is often bluish in color. The affected individual often has a history of vague abdominal pain with
Figure 29.9 Hysterosalpingograms of normal and abnormal female genital tracts. The radiographic photographs have been reversed to accentuate the uterine cavities. A: Normal study with bilateral spill. B: Bicornuate uterus. C: Uterus didelphis. D: Uterus didelphis with double vagina. (Courtesy of Dr. A. Gerbie; from Spitzer IB, Rebar RW. Counselling for women with medical problems: ovary and reproductive organs. In: Hollingsworth D, Resnik R, eds. Medical counselling before pregnancy. New York: Churchill Livingstone, 1988:213–248, with permission.) approximately monthly exacerbations. It is sometimes difficult to distinguish an imperforate hymen from a transverse vaginal septum, and in most situations, examination under anesthesia is required.