This article describes psychosexual outcomes and issues in syndromes of female pseudohermaphroditism, broadly defined. Congenital adrenal hyperplasia, the most common cause of intersex genitalia at birth, is covered as are Turner Syndrome and syndromes in which XY infants who are born with undervirilized genitalia are assigned and reared as girls (androgen insensitivity syndrome; cloacal exstrophy). The same hormonal abnormalities that cause most physical intersex conditions also influence brain development and behavior; individuals who have intersex conditions can show behavior that is in between that of the typical boy/man and the typical girl/woman. Changes in sex-typical play behavior in childhood are larger than in sexual orientation or core gender identity in adulthood. Most female pseudohermaphrodites, whether XX or XY, who are assigned and reared as girls evolve a feminine core gender identity and primarily are heterosexual. Implications for current debate about the treatment of infants who have ambiguous genitalia are discussed, as is the need for additional research and for consideration of psychologic counseling as part of the treatment program.

Feminine pseudo-hermaphroditism and ovarian polycystic syndrome: the role of hydrocortisone.Gynecol Obstet Fertil. 2002 Jun;30(6):498-502.

We report the case of a patient who was initially assigned as a male, and in whom the diagnosis of CAH was delayed (17 years of age). He was shown to have female pseudohermaphrodites. Before treatment, plasma testosterone level was: 15 ng/mL (N: 0.1-0.7), 17 OH progesterone (17 OHP): 45 ng/mL (N: 0.1-1.1) and FSH, LH values were below the normal range. While taking hydrocortisone, a rapid onset of new clinical, biological and radiological findings were observed after three months: rapid menarche and thelarche occurred, plasma testosterone and 17 OHP levels decreased, respectively 1 and 3.7 ng/mL, plasma FSH and LH were respectively 4.1 mUI/mL (N: 1.5-7) and 14.3 m UI/mL (N: 1.1-11.7). Polycystic ovaries were shown at sonography. Authors try to discuss the mechanism of the new events observed and specially those related to the polycystic ovarian disease. In a female with untreated CAH at adult age, menarche can rapidly occur once appropriate treatment was started.

Rare forms of female pseudohermaphroditism: when to investigate. Arq Bras Endocrinol Metabol. 2005 Feb;49(1):126-37. Epub 2006 Mar 16.

The congenital adrenal hyperplasia is the commonest cause of ambiguity of the external genitalia at birth, due to classic forms of 21-hydroxylase and 11beta-hydroxylase deficiencies. 3beta-hydroxysteroid dehydrogenase (3betaHSD) is a rare disorder that affects both sexes and female patients may have ambiguous genitalia. Familial glucocorticoid resistance is characterized by increased cortisol secretion without clinical evidence of hypercortisolism, but with manifestations of androgen and mineralocorticoid excess, caused by glucocorticoid receptor gene mutation, and rarely can lead to female pseudohermaphroditism. Placental aromatase deficiency is a rare disease characterized by a masculinized female fetus and a virilized mother, which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours. Finally, mutations of P450 oxidoreductase causes disordered steroidogenesis with ambiguous genitalia. The investigation of abnormal sexual development requires an initial karyotype analysis and serum 17OH progesterone, 11 deoxycortisol, 17 pregnenolone, and androgen measurements to assess the diagnosis of different forms of congenital adrenal hyperplasia.

OBJECTIVE: To present the clinical, biochemical, and genetic features of a male pseudohermaphrodite whose condition was caused by 17beta-hydroxysteroid dehydrogenase 3 (17beta-HSD3) deficiency. DESIGN: Case report. SETTING: Gynecology practice in a university teaching hospital. PATIENT(S): A 15-year-old black American male pseudohermaphrodite with 17beta-HSD3 deficiency. INTERVENTION(S): Laboratory evaluation, genetic mutation analysis, bilateral gonadectomy, and hormone replacement. MAIN OUTCOME MEASURE(S): Endocrinologic evaluation and genetic analysis. RESULT(S): A diagnosis of 17beta-HSD3 deficiency made on the basis of hormone evaluation was confirmed through genetic mutation analysis of the HSD17B3 gene. Female phenotype was attained after gonadectomy, passive vaginal dilatation, and hormone therapy. CONCLUSION(S): Deficiency of 17beta-HSD3 was diagnosed in this patient on the basis of endocrinologic evaluation and was confirmed with genetic mutation analysis. The patient was able to retain her female sexual identity after surgical and medical treatment.

Study of a new case of male pseudohermaphroditism due to 17-ketosteroid reductase deficiency (author's transl). Ann Endocrinol (Paris). 1979;40(6):549-50.

We studied a 17 year old patient with primary amenorrhea, hirsutixm, clitoral enlargment, poor breast development and 46, XY karyotype. The results shown in table clearly indicate a 17-ketosteroid reductase deficiency. In the view of previously described patients we can conclude that: 1) intensity of virilisation depends on both plasma testosterone and androstenedione levels; 2) importance of gynecomastia depends on plasma E2 but not E1 levels; 3) FSH levels are not correlated with circulating androgens or estrogens but presumably depends on importance of seminiferous tubules' lesions.

Male pseudohermaphroditism with gynaecomastia due to testicular 17-ketosteroid reductase deficiency. Clin Endocrinol (Oxf). 1977 Dec;7(6):443-52.

A 28-year-old male pseudohermaphrodite with gynaecomastia was raised as a female until the age of 17 years, at which time he developed masculine features (deepening of the voice, development of facial hair, male distribution of body hair and male body habitus) and assumed a male gender role. He had a small phallus with perineal urethra, absence of labioscrotal fusion, presence of vaginal pouch and undescended testes. The testicular biopsy showed hyalinization of the tubular basement membrane, lack of spermatogenesis and hyperplastic Leydig cells. Baseline peripheral plasma studies showed androstenedione concentrations ten times normal, low testosterone, elevated oestrone and elevated gonadotrophins. The in vitro incubation of testicular tissue showed no significant conversion of androstenedione to testosterone. However, two types of peripheral tissues, skin fibroblasts and erythrocytes, had a normal conversion, as did the body overall as measured by the technique of androstenedione constant infusion. These studies demonstrate that the 17-ketosteroid reductase deficiency of the patient was limited to the testes.