Mister XX

Abstract

Female pseudohermaphroditism represents discrepancy between karyotype and gonadal features on one side and a psychogenic phenotype on the other. Congenital adrenal hyperplasia is the part of the spectrum of female pseudohaermaofroditism and is due to an enzyme deficiency in steroidogenesis. More than 95% of patients have 21 hydroxylase deficiency which leads to a lack of cortisol and ACTH hypersecretion of pituitary, overproduction of 17 hydroxy progesterone (17OHP) and androgens and adrenal cortex hyperplasia. The clinical phenotype is classified as classical and nonclassical (aka. 'Late onset' form). The classic form is represented as salt-waisting and simply virilizing, depending on the degree of lack of aldosterone. Pathophysiology of CAH due to the lack of 21α hydroxylase is closely associated with the degree of enzyme deficiency. Overproduction of androgens is leading to accelerated virilisation. Classical form is manifested in childhood and is characterized by the overproduction of cortisol precursors and adrenal androgens. In the most severe form, co-aldosterone deficiency leads to loss of salt with all the complications. Girls with the classical form of CAH typically have am ambiguous genitals at birth due to high concentrations of androgens in utero. CAH due to 21OH deficiency is the most common cause of ambiguous genitals in 46XX newborns. Characteristically, the clitoris is enlarged, partially fused labia maiora and a common urogenital sinus at the site of the urethra and vagina. The uterus, Fallopian tubes and ovaries are present and normal, a structures of Wolfian duct are absent. When diagnosed in childhood 46XX CAH patients has been assigned female gender so far, even in fully expressed in virilised external genitalia. This dogmatic approach is based on preserving fertility, and if there was at least uterus, opting for female sex was considered justified. Only about 5% of 46 patients with XX KAH has a psychogenic male gender, as described patient. In addition to mutations of CYP21A2 and effects of high concentration of androgen in the CAH, in the phenotypic expression of CAH different length of sequence of CAG androgen receptor could have an impact, which modulates the effect of androgens on the periphery. Also, while the cases of adaptation of sexual identity and the external genitalia from female to male were documented, not a single case of questionable male sexual identity is noted. In the presented patient testosterone levels are at the upper limit for men, which may be due to enzymatic block and synthesis of cortisol precursor, which is further metabolized to the active androgen: testosterone and dihydrotestosterone. High concentrations of T prenatally and in infancy has led to premature fusion epiphysis and low growth, and high concentrations of DHT to clitoromegaly. The LHRH test showed no stimulatory response of LH, which is probably suppressed by high concentrations of testosterone , but there still needs to be done endocraniaol MNR to rule out other possible etiologies of gonadotroph suppression. Dexamethasone suppression test with measurement of testosterone could give an answer. The treatment of adult patients is based on hydrocortisone in dosages that provide permanent substitution of cortisol and suppress ACTH hypersecretion. In 46 XX patients who are phenotypically male, and whose full identity is male, reconstructive surgical procedures are needed to enable adequate quality of life.

Keywords

• congenital adrenal hyperplasia
• gender
• adrenal incidentaloma