Originally characterized in 1957 by French biochemist Jacques Decourt,<unk>  differs from classic CAH in that it does not cause atypical neonatal genital morphology, is not life threatening and presents after birth. Unlike classic CAH,<unk>  generally cannot be reliably detected with neonatal screening. Many individuals (both male and female) present no symptoms during childhood and adolescence and only become aware of the possibility of<unk>  due to the diagnosis of another family member. It is thought that 90% of women with<unk>  never receive a diagnosis. In young females, premature pubarche is generally the first symptom to present. The earliest known diagnosis was in a 6 month old female who developed pubic hair. Additional symptoms include acne, menstrual irregularities and hirsutism in females as well as alopecia in males.<unk>  is often misdiagnosed as polycystic ovarian disease (PCOS).<unk>  is often diagnosed in the context of infertility assessment in women. During the follicular phase of the menstrual cycle, progesterone accumulates along with 17α-hydroxyprogesterone which can thin the endometrium and change cervical mucus in a manner similar to the effect of progestogen contraceptives, interferes with the normal menstrual cycle, which can lead to oligomenorrhea or amenorrhea and impairs sperm penetration. Abnormal endometrial development leads to decreased uterine receptivity, which also contributes to infertility. Once attempting to conceive, most women with<unk>  will become pregnant within a year with or without treatment, but women with<unk>  have an increased risk of miscarriage. The diagnostic procedure varies according to the specific enzyme deficiency causing<unk>  and the precise serum androgen levels required for diagnosis are the subject to variance from different measurement methods, refinement in specific cases and are under active research. Some protocols are based on measuring 17α-hydroxyprogesterone levels, with or without ACTH stimulation test. 21-Hydroxylase deficiency Screening The condition of 21-hydroxylase deficiency is screened by measuring serum levels of 17α-hydroxyprogesterone (17-OHP) in the morning and between day 3 and 5 of the menstrual cycle (for females) to reduce the possibility of false positive results. 17-OHP is used as a marker of the 21-hydroxylase enzyme activity since the 1980s. The cutoff basal 17-OHP value is matter of debate. Most commonly, the value of 2.0 ng/mL is used, but a value of 1.7 ng/mL provides better selectivity. Most research on the biochemical diagnosis of<unk>  relied on direct immunoassays, such as radioimmunoassays or time-resolved fluorescence assay to measure 17-OHP, therefore, cross-reactivity and reliability problems of these methods might have caused differences in the 17-OHP cutoff values recommended, so the use of liquid chromatography–mass spectrometry aims to improve the accuracy of 17-OHP measurement and increase diagnostic quality of<unk> . Randomly timed measurements of 17-OHP have not been shown to be useful for screening since they are often normal and are known to be very high in the luteal phase of the female menstrual cycle. After basal levels have been measured, confirmation is done by administering ACTH, and comparing 17-OHP pre and post test. 17-OHP levels over 10 ng/mL at the 60th minute post stimulation is considered diagnostic for<unk> . Androgen backdoor pathway In 21-hydroxylase deficiency, especially in mild cases<unk> , the androgen "backdoor" pathway may be the reason of androgen excess. This backdoor pathway is not always considered in the clinical evaluation of patients with hyperandrogenism conditions such as<unk>  and may be a source of diagnostic pitfalls and confusion. One case study demonstrated the importance of considering serum 5α-dihydrotestosterone (DHT) levels and the androgen backdoor pathway in a<unk>  diagnosis that would have not been apparent from testosterone levels alone. 11β-Hydroxylase deficiency The activity of 11β-hydroxylase can be determined by observing the basal 11-deoxycortisol level. A level over 10 ng/mL, indicates followup with ACTH stimulation test. The 60th minute post-stimulation 11-deoxycortisol levels higher than 18 ng/mL are diagnostic of<unk> . 3β-Hydroxysteroid dehydrogenase deficiency The activity of 3β-hydroxysteroid dehydrogenase can be determined by observing the basal 17α-hydroxypregnenolone level. A level above 30 ng/mL and 17α-hydroxypregnenolone/cortisol ratio above 10 SD are diagnostic of<unk> .
Late onset congenital adrenal hyperplasia
Lipoid congenital adrenal hyperplasia
Congenital adrenal hyperplasia
Primary pigmented nodular adrenocortical disease
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 2
Multiple endocrine neoplasia
Persistent adrenarche syndrome