OVERVIEW
OVERVIEW
Steroid 5α-reductase 2 deficiency syndrome is a congenital male pseudohermaphroditism involving only dihydrotestosterone in the terminal sex organs, resulting in external genital malformations. Commonly, there is a short penis, gonadal hypoplasia, hermaphroditism, hypospadias, blind pouch vagina, scanty semen, absence of beard, absence of axillary and pubic hair, and hyperpigmentation.
Whether medical insurance
Yes
Consultation Department
Endocrinology, Urology
Clinical symptoms
External genital hermaphroditism, perineal hypospadias, absence of pubic hair and axillary hair, absence or scarcity of beard.
Harms
It can lead to psychopathology and affect social security.
Examination
Physical examination, measurement of serum testosterone level and dihydrotestosterone concentration, semen analysis, human chorionic gonadotropin excitation test, genetic analysis, etc.
Diagnosis
Diagnosis is made on the basis of family history, clinical manifestations such as external genital hermaphroditism, combined with genetic and endocrine tests.
Treatment principle
Surgery combined with hormone replacement therapy.
Curability
With treatment, symptoms can be improved, but long-term medication is required.
Dietary advice
Reasonable diet and balanced nutrition.
Etiology
Etiology
Caused by gene mutation, altered enzyme activity, heredity and other factors.
Symptoms and Diagnosis
Typical symptoms
1. Genital system external genital hermaphroditism, micropenis, perineal hypospadias, blind pouch vagina, absent or underdeveloped prostate, testes located in the inguinal canal or in the labial scrotal folds. Often raised as a female at birth.2. Pubertal development presents with progressive masculinization, change of voice, increased muscle volume, and penile enlargement, but no pubic or axillary hair, no beard growth or scarcity, no acne, no temporal frontal hairline recession, and, except for a few patients, generally no gynecomastia.
Diagnostic basis
1. relevant family history and external genital malformations, mostly female-like, but with progressive masculinization after puberty. 2. normal plasma testosterone levels and decreased dihydrotestosterone, with an increased ratio of the two. 3. genetic analysis showed mutations in the steroid 5α-reductase 2 gene.
Treatment
Treatment guidelines
Improvement of symptoms by surgical treatment, hormone replacement therapy.
Medication
1. Patients living as men are given testosterone replacement therapy, usually with drugs such as testosterone propionate, testosterone enanthate, testosterone undecanoate, etc. 2. Patients living as women are given estrogen replacement therapy.
Surgical treatment
1. Patients living as males undergo external genital reconstruction, repair of hypospadias and penile urethroplasty, along with descending fixation of the testes if they are located in the inguinal canal. 2. Patients living as females should have their testes removed before puberty to avoid the process of masculinization, and undergo clitoroplasty and, if necessary, vaginoplasty.
Prognosis
The prognosis is good, but long-term medication is required.
Nursing care
Daily care
1. Provide psychological care to help patients form gender identity and face life positively. 2. Maintain local hygiene to avoid infection. 3. Follow medical advice, take medication on time, and have regular checkup. 4.
Dietary care
Reasonable diet and balanced nutrition.
Other Attention
Determine the gender orientation as early as possible and carry out appropriate surgical treatment to avoid psychological impact.