Drug treatment in endocrine disorders
Disorder of sex development DSD
In human sexual development, the female phenotype represents the default pathway. therefore, a failure of testis determination results in the development of the female
phenotype, while genetic alterations resulting in partial testicular development can give rise to a wide spectrum of masculinization. In addition to defects in peptide hormones and their
receptors, timing of hormonal exposure is also critical to appropriate development. Genital anomalies are estimated to occur in 1 in 4500 births.
Disorder of sex development DSD
is a medical term referring to congenital conditions in which development of chromosomal, gonadal, or
anatomical sex is atypical.
Patients with ambiguous genitalia have disorders of sexual development DSD, that previously termed intersex conditions. The term DSD in lieu of potentially pejorative and
confusing terms such as intersex, pseudohermaphroditism, hermaphroditism, sex reversal, and gender-based diagnostic labels. For clinical purposes, DSDs in newborns are classified
according to karyotype. Based on the various steps of sex differentiation and development, we suggest the following classification: A DSD with a 46,XY karyotype formerly referred to
as male pseudohermaphroditism, undervirilization of an XY male and undermasculinization of an XY male. In 46,XY DSD the bipotential gonads differentiate to variable degrees into
testes, B DSD with a 46,XX karyotype formerly referred to as female pseudohermaphroditism or masculinization of an XX female. In 46,XX DSD the bipotential
gonads usually differentiate into ovaries but with abnormally increased androgen exposure and C DSD with an unusual karyotype such as mosaicism 45,XO46,XY or 46,XX46,XY,
transposition of genes 46,XX, SRY+ or chromosome deletions that include one of the genes necessary for sex determination and differentiation.
For optimal clinical management of individuals with DSD, the consensus statement recommends the following: Avoid gender assignment in newborns before expert evaluation.
Conduct evaluation and long-term management at a center with an experienced multidisciplinary team, including pediatric subspecialists in endocrinology, surgery or urology
or both, psychologypsychiatry, gynecology, genetics, neonatology, and, if available, social work, nursing, and medical ethics. Give a gender assignment to all individuals. Openly
communicate with patients and families and encourage their participation in decision making. Respect patient and family concerns, and address them in strict confidence.