Objectives: To describe the phenotype variation in Indonesian 46,XX late-identified congenital adrenal hyperplasia(CAH) and the correlation between 17-hydroxyprogesterone (17-OHP) and genital virilization. Methodology: Retrospective study of 39 cases with five salt-wasting (SW) and 34 simple virilizing (SV) types. Results: The median age of the patients was 9.83 years (range, 0.58 to 44 years) with Prader score 2 to 5. Clitoromegaly (100%) and skin hyperpigmentation (87%) were the most common features. Lack of breast development(Tanner 1 to 2) and menstrual disorders occurred in 9 patients (teenagers and adults). Short stature (6), low voice (14),prominentAdam’s apple (9) and hirsutism (4) were found only in SV types Rapid growth (7) and precocious puberty (8)were identified in children. Male gender on admission was found in 13 patients. The mean of 17-OHP level was 304.23nmol/L [standard deviation (SD) 125.03 nmol/L]. There was no correlation between 17-OHP levels and virilization(r=0.19, p>0.05). Conclusion Late-identified CAH showed severe virilization and irreversible sequelae, with clitoromegaly and skinhyperpigmentation as the most commonly seen features. Masculinization of CAH females created uncertainty withregard to sex assignment at birth, resulting in female, male and undecided genders. There is no significant correlationbetween 17-OHP levels with the degree of virilization in CAH females
Phenotype ; Virilism

Introduction: Quality of life among infertile patients can be measured using a tool has been developed. The tool is The Fertility Quality of Life (FertiQoL). This tool has been translated into 45 languages, and its validation has been studied in some of them. FertiQoL has been translated into Bahasa Indonesia, and reported based on a limited number of female samples.This study used a larger sample size, which consisted of male and female patients to further validate FertiQoL both internally and externally using WHOQoL-BREF questionnaire. Methods: The FertiQoL questionnaire was distributed in three private hospitals, one private obstetrician and gynaecologist clinic through purposive sampling method between March 2017 and April 2018. A package containing demographic questions and FertiQoL questionnaire was distributed to patients who met the inclusion criteria and one third of them were asked to filled in the WHOQoL-BREF questionnaire for convergent validation. Results: Demographic and FertiQoL were completeted by 614 patients, whereas 217 patients filled in additional WHOQoL-BREF. Significant positive correlations were found on all FertiQoL subscales through convergent validation with WHOQoL-BREF. Intra-correlation of each question in FertiQoL was found to correspond the highest to its intended subscale. The alpha coefficient of FertiQoL subscales was between 0.11-0.85. Omitting reverse-worded questions from the questionnaire increased FertiQoL alpha coefficient to 0.60-0.87. Conclusion: In the Indonesian language, FertiQoL was an internal and external tool that valid and reliable to assess the quality of life of infertile patients. However, further evaluation is needed to increase reliability on the relational and social subscale.