Sharma Shilpa, Gupta D K
Department of Pediatric Surgery, All India Institute of Medical Sciences, New Delhi, India.
Pediatr Surg Int. 2008 Oct;24(10):1131-5. doi: 10.1007/s00383-008-2232-7.
To study the gender assignment and hormonal treatment advocated for disorders of sexual differentiation (DSD).
A study was done on patients who were reviewed in the Pediatric Intersex Clinic to evaluate the pattern of gender assignment and hormonal treatment advocated.
The patients included male pseudohermaphrodite (MPH) 169; congenital adrenal hyperplasia (CAH) 91; mixed gonadal dysgenesis (MGD) 29; true hermaphrodite (TH) 25; pure gonadal dysgenesis (PGD) 2; persistent mullerian duct syndrome (PMDS) 2 and others (micropenis, severe hypospadias with cryptorchidism, 46XX male) 39. Out of 91 cases of CAH, 70 (76.9%) were on steroids (prednisolone, hydrocortisone) and/or mineralocorticoids (fluoricortisone) for adrenal suppression. Out of 146 cases of male pseudohermaphrodite and 21 cases of true hermaphrodite and 3 cases of mixed gonadal dysgenesis reared as males, testosterone was given for local application for phallic growth in 101 and/or as systemic injection for mental makeup after puberty in 41 cases. Systemic testosterone injection was also given for 7 cases of CAH reared as males. Out of 26, 15 cases with mixed gonadal dysgenesis and one out of 2 cases of pure gonadal dysgenesis that attained puberty after being reared as females, after female genitoplasty, were given conjugated oestrogen (Premarin) supplemented with progesterone, as the uterus was preserved. For 12 post-pubertal cases of complete androgen insensitivity syndrome (AIS), only premarin was given as there was no uterus. Growth hormone and Gn RH analogue was given in 2 patients with CAH to tide over the early bone maturation induced by hormones with equivocal results. Thus judicious hormonal supplementation based upon type of DSD and gender assigned can provide a psychological and cosmetic benefit to patients with DSD.
研究针对性发育异常（DSD）所倡导的性别指定和激素治疗。
对在儿科两性畸形诊所接受复查的患者进行研究，以评估所倡导的性别指定模式和激素治疗。
患者包括男性假两性畸形（MPH）169例；先天性肾上腺皮质增生症（CAH）91例；混合性性腺发育不全（MGD）29例；真两性畸形（TH）25例；单纯性腺发育不全（PGD）2例；持续性苗勒管综合征（PMDS）2例以及其他（小阴茎、重度尿道下裂合并隐睾、46XX男性）39例。在91例CAH患者中，70例（76.9%）使用类固醇（泼尼松龙、氢化可的松）和/或盐皮质激素（氟氢可的松）进行肾上腺抑制。在146例男性假两性畸形、21例真两性畸形以及3例按男性抚养的混合性性腺发育不全患者中，101例给予睾酮用于局部涂抹以促进阴茎生长，41例在青春期后给予睾酮全身注射以改善心理状态。7例按男性抚养的CAH患者也接受了睾酮全身注射。在26例混合性性腺发育不全患者中，15例以及2例按女性抚养后进入青春期的单纯性腺发育不全患者中的1例，在进行女性生殖器成形术后，给予结合雌激素（倍美力）并补充孕激素，因为保留了子宫。对于12例青春期后的完全性雄激素不敏感综合征（AIS）患者，由于没有子宫，仅给予倍美力。2例CAH患者使用生长激素和Gn RH类似物来应对激素引起的早期骨成熟，但效果不明确。因此，根据DSD类型和指定性别进行明智的激素补充可为DSD患者带来心理和外观上的益处。
