Gender identity in patients with 5-alpha reductase deficiency raised as females.

BACKGROUND AND OBJECTIVE: 5-Alpha reductase type 2 deficiency (5-ARD) is a rare disorder of sex development. The lack of 5-alpha reductase, an enzyme that converts testosterone into dihydrotestosterone, results in external genitalia that may appear female, or predominantly male, albeit undervirilized, or, more often, ambiguous. METHODS: This study describes a series of patients with 5-ARD raised as female, focusing on aspects related to gender identity. Following a retrospective chart review, patients with 5-ARD were invited to return to the clinic to enable their gender identity to be assessed using an 11-item structured in-house questionnaire. The Golombok-Rust Inventory of Sexual Satisfaction was applied to patients who had initiated their sexual life. RESULTS: Six patients aged >15 years with 5-ARD and raised as female were included. Most patients were diagnosed late: two before and four after puberty. The mean length of the phallus was 2.8 cm (0.5-5.0). Reasons for seeing a doctor included genital appearance (n = 3), amenorrhea/absence of breast development (n = 2), and changes in gender role attitudes (n = 1). According to the gender identity assessment, 4 patients identified as female, 1 as male, and 1 as both genders. Only the patient identified as male requested gender re-assignment. Of the two patients who had initiated their sexual life, sexual satisfaction was found to be good in one and poor in the other due to vaginal discomfort during intercourse. CONCLUSION: In the present series, the majority of undervirilized patients with a diagnosis of 5-ARD raised as female were in complete conformation with being female and described themselves as heterosexual. The more virilized patients were those least in conformity with their female-assigned gender.

[Value of ventricular geometry in the evaluation of direct ventricular pressure]. / Interesse da geometria ventricular na avaliação da pressão ventricular direita.

OBJECTIVE: To determine the echocardiographic end-systolic ventricular geometry value in evaluating right ventricular systolic pressure (RVSP). MATERIAL AND METHODS: We studied prospectively 68 patients (mean age = 6.0 +/- 5.0 years), submitted to cardiac catheterization for cardiac disorders not involving left ventricular (LV) outflow tract obstruction, within 24 hours after two-dimensional echocardiographic (2D echo) examination. 2D echo evaluation of RVSP was performed using end-systolic LV transverse orthogonal diameters (TDR). The LV transverse orthogonal diameters (antero-posterior and supero-inferior) were measured on a parasternal short-axis image, at the tips of papillary muscles. 2D echo semi-quantitative evaluation of RVSP was tested correlating TDR with hemodynamic RVSP/LV systolic pressure (LVSP) ratio--group 1. We also used regression equation derived from the first 35 patients to quantify RVSP in the last 33 patients--group 2. In these cases, systolic systemic arterial pressure measured by sphygmomanometry was taken as LVSP. RESULTS: The TDR ranged from 1.0 to 2.1 (mean = 1.5 +/- 0.3) and the RVSP/LVSP ratio from 0.3 to 1.7 (mean = 0.7 +/- 0.4). All patients with RVSP/LVSP greater than or equal to 65% have TDR greater than or equal to 1.3 and when RVSP less than or equal to 35 mmHg we always obtained TDR less than or equal to 1.2. The correlation between 2D echo estimated and catheter measured RVSP shows, for group 1, r = 0.88 and y = 1.1X-0.88 and, for group 2'. r = 0.88. CONCLUSION: In the absence of LV systolic obstruction, TDR is a reliable non invasive method in evaluating the RVSP.