Delivery of a newborn with a disorder of sexual diferentiation is a potential medical emergency and can create possible longlasting psychosexual and social ramiications for the individual and family. Ideally, as soon as the afected neonate is stable, parents are encouraged to hold the child. he newborn is referred to as "your baby," and suggested terms include "phallus," "gonads," "folds," and "urogenital sinus" to reference underdeveloped structures. The obstetrician explains that the genitalia are incompletely formed and emphasizes the seriousness of the situation and the need for rapid consultation and laboratory testing.
Because similar or identical phenotypes may have several etiologies, identiication of a speciic DSD may require several diagnostic tools (McCann-Crosby, 2015). Relevant neonatal physicl examination evaluates: (1) ability to palpate gonads in the labioscrotal or inguinal regions, (2) ability to palpate uterus during rectl examination, (3) phallus size, (4) genitalia pigmentation, and (5) presence of other syndromic features. The newborn metabolic condition is assessed, as hyperkalemia, hyponatremia, and hypoglycemia may indicate CAH. he mother is examined for signs of hyperandrogenism. Other neonatal tests include genetic studies, hormone measurements, imaging, and in some cases endoscopic, laparoscopic, and gonadal biopsy. Sonography shows the presence or absence of miillerian/wolian structures, n locate the gonads, and can identiy associated mlformations such as renal anomalies.
Very early during embryo formation, a bilaminar cloacal membrane lies at the caudal end of the germinal disc and forms the infraumbilical abdominal wall. Normally, an ingrowth of mesoderm between the ectodermal and endodermal layers of the cloacal membrane leads to formation of the lower abdomi nal musculature and pelvic bones. Without this reinforcement, the cloacal membrane may prematurely rupture, and depend ing on the extent of the infraumbilical defect, cloacal exstrophy, bladder exstrophy, or epispadias may result.
Of these, cloacal exstrophy is rare. It includes the triad of omphalocele, bladder exstrophy, and imperforate anus.
Bladder exstrophy is uncommon and is characterized by an exposed bladder lying outside the abdomen. Associated ind symphysis pubis. At the same time, however, the uterus, fal lopian tubes, and ovaries are typically normal except for occa sional miillerian duct fusion defects. Pregnancy with bladder exstrophy is associated with greater risk for antepartum pyelonephritis, urinary retention, ureteral obstruction, pelvic organ prolapse, preterm birth, and breech presentation. The guidelines for pregnancy (Eswara, 2016). Due to the exten encountered, some recommend planned cesarean delivery at a tertiary center (Deans, 2012; Dy, 2015; Greenwell, 2003).
Epispadias without bladder exstrophy is rare and develops in association with other anomalies such as a widened, patulous tened mons pubis. Vertebral abnormalities and pubic symphy sis diathesis are also common .
Clitoral anomalies are unusual. One is clitoral duplication or biid clitoris, which is rare and usually develops in association with bladder exstrophy or epispadias. With female phallic urethra, the urethra opens at the clitoral tip. Last, clitoromegaly noted at birth suggests fetal exposure to excessive androgens (p. 40). In other cases, congenital clitoromegaly in females born extremely premature is a rare but well-recognized finding thought to be due to transient androgen levels in these neonates (Greaves, 2008).