Endocrine | 2021
The way toward adulthood for females with nonclassic congenital adrenal hyperplasia
Abstract
Females with NC21OHD may present as asymptomatic or develop a wide range of androgen excess expression. Clinical manifestations may become evident in childhood and adolescence and include premature pubarche, precocious puberty, acne, hirsutism, and menstrual disorders or present later in life as oligo-ovulation and infertility. Glucocorticoids have been the mainstay of treatment as they regulate excess androgen expression by dampening ACTH activation. Their use requires a careful dose monitoring to avoid overtreatment and subsequently the risk of obesity, type 2 diabetes, dyslipidemia, hypertension, and osteoporosis. Women with NC21OHD need regular follow up throughout their life in order to overcome the physical and psychological burden of hyperandrogenism. NCCAH is considered the most common autosomal recessive endocrine disorder with a carrier frequency of 1:25 to 1:10. There is no concordance of genotype–phenotype and some mutations may cause important virilization. The clinical spectrum is broad, and clinical manifestations of androgen excess may present in any stage of the life from early childhood, adolescence, or during reproductive age. During childhood, the main concern for these females is their growth evaluation and appropriate bone maturation to chronological age. During adolescence and reproductive years, the main issues are control of androgen excess signs (hirsutism, acne, alopecia), normalization of menstrual disorders, and restoration of ovulatory cycles. Glucocorticoids may be used for short periods in order to hamper growth acceleration, and restore regular menses and ovulatory cycles but longer glucocorticoid treatment is not recommended due to the risk of osteoporosis, obesity, and metabolic syndrome. In case of cortisol deficiency as per ACTH test (F 30\u2009min <18\u2009μg/dl) then education on adrenal crises prevention should be given. NCCAH is considered the most common autosomal recessive endocrine disorder with a carrier frequency of 1:25 to 1:10. There is no concordance of genotype–phenotype and some mutations may cause important virilization. The clinical spectrum is broad, and clinical manifestations of androgen excess may present in any stage of the life from early childhood, adolescence, or during reproductive age. During childhood, the main concern for these females is their growth evaluation and appropriate bone maturation to chronological age. During adolescence and reproductive years, the main issues are control of androgen excess signs (hirsutism, acne, alopecia), normalization of menstrual disorders, and restoration of ovulatory cycles. Glucocorticoids may be used for short periods in order to hamper growth acceleration, and restore regular menses and ovulatory cycles but longer glucocorticoid treatment is not recommended due to the risk of osteoporosis, obesity, and metabolic syndrome. In case of cortisol deficiency as per ACTH test (F 30\u2009min <18\u2009μg/dl) then education on adrenal crises prevention should be given.