Sexual Development Disorders

Sometimes, new-born infants are born with ambiguity of their genitalia. The causes are multiple and the treatments dictated by the cause. One such instance is where baby girls over produce male hormones before birth due to a genetic biochemical lesion of the adrenal glands (congenital adrenal hyperplasia or CAH). Here, a baby girl can be mistakenly thought to be a baby boy with un-descended testes. About half of such infants lose salt from their bodies and can succumb without steroid replacement therapy. Screening of new-born infants is now done routinely for CAH.  Baby boys usually are born with descended testes. If one or more do not come down (un-descended testes) within the first year, a course of hormones may be given by the Clinic to induce testicular enlargement which in turn may bring the testis (testes) down. Should this not be successful, then the testis is brought down surgically at this time of life as they may become damaged otherwise. Boys with an abnormally small penis (micro-penis) also are often treated hormonally with infancy to achieve a satisfactory result. Certain boys can develop sexual precocity when puberty happens prematurely. The Clinic evaluation is to decide whether puberty is partial (adrenal gland puberty or premature pubarche) only or true puberty involving both testes and ovaries when causes of this need to be identified. Premature puberty often shortens the growth period and so such boys albeit big for age when first seen, are destined to become short adults without treatment. The Clinic offers several ways to prevent this. Patients with premature pubarche often go onto develop insulin resistance if they have not done so already. Unusually, such boys have a mild form of CAH (non-classical CAH). Besides early sexual development, others have an unusually delayed sexual maturation. The most commonly encountered problem of this sort is where normal puberty comes at an age 2-3 later than in peers. This problem (constitutionally delayed puberty) often runs in family members, especially affecting fathers and their sons. At other times, their may be one of two chromosomal problems causing incomplete testicular development (Prader-Willi syndrome, and Klinefelter’s syndrome. In these instances, some form of hormone replacement will be offered by the Clinic.

Premature sexual development can be true (involving both the ovaries and adrenal glands) or partial (involving only the ovaries or adrenal glands). Whereas the cause of true sexual precocity will be explored by the Clinic, treatments are available to arrest sexual development to prevent short stature in when adult. One cause of ovarian precocious puberty is the McCune Albright syndrome where due to a genetic lesion, estrogens are produced in large amounts during puberty giving rise to early menstruation. Hyperthyroidism is also common with a goiter (enlarged thyroid). Premature pubarche (adrenal puberty) is strongly associated with insulin resistance similar to the situation in girls, however some patients have non-classical congenital adrenal hyperplasia. Lack of sexual development and menstruation by age 16-17 years can be a normal variant, can be due to a hypothalamic-pituitary gland disorder such as Prader-Willi syndrome associated with muscle weakness (hypotonia) and obesity beginning after the second year of life, and Kallman’s syndrome where there is often lack of ability to smell as well as poor sexual development.  Hypopituitarism from other lesions cannot result in lack of sexual development. In older girls where puberty begins on time followed by problems with menstruation after onset of menses is most often due to insulin resistance and PCOS. Older women may have prolactinomas of their pituitary gland which may be associated with milk let down (galactorrhea). One curious disease involves girls who are normal until puberty but develop male sexual development at the time of puberty. This is due to an enzyme deficiency of testosterone metabolism (5 alpha reductase deficiency), unusually common in Dominican children.