Ishii Tomohiro, Sasaki Goro, Hasegawa Tomonobu, Sato Seiji, Matsuo Nobutake, Ogata Tsutomu
Department of Pediatrics, Keio University School of Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
J Urol. 2004 Jul;172(1):319-24. doi: 10.1097/01.ju.0000129005.84831.1e.
We report penile length (PL) responses to testosterone enanthate (TE) therapy for micropenis, and the relevance of the V89L polymorphism of SRD5A2 encoding the 5alpha-reductase type 2 and CAG repeat length polymorphism of AR encoding the androgen receptor.
A total of 53 Japanese boys with micropenis (less than -2.0 SD) 0 to 13 years old who had no SRD5A2 or AR mutation were examined. TE was given at a dosage of 25 mg intramuscularly, and PL was measured at least 4 weeks after the injection. The 2 polymorphisms were determined by direct sequencing.
PLs became -2.0 SD or greater in all the boys after TE therapy (1 injection in 4 boys, 2 in 28, 3 in 19 and 4 in 2), with a significant increase in the medians of PLs (from 2.5 to 3.5 cm, p <0.0001) and SD score, (from -2.6 to -0.7, p <0.0001). The increment in actual PL at the first injection ranged from 0.2 to 1.5 cm (median 0.6) and was independent of age (r = 0.22, p = 0.12) and body surface area (r = 0.11, p = 0.43), while that in PL SD score at the first injection ranged from 0.3 to 2.5 (1.0) and was inversely correlated with age (r = -0.33, p = 0.02) and body surface area (r = -0.37, p = 0.008). The actual PL increment at the first injection was also unrelated to initial PL (r = -0.03, p = 0.81). The median of actual PL increments at the first injection was similar among boys with V/V, V/L and L/L genotypes of SRD5A2 (0.6 cm in 18, 0.7 cm in 30 and 0.5 cm in 5, respectively, p = 0.77), and between boys with and without long CAG repeats (26 or greater) of AR (0.65 cm in 6 and 0.6 cm in 47, respectively, p = 0.77). In addition, there was no significant correlation between actual PL increment at the first injection and CAG repeat length (r = 0.06, p = 0.67).
Our results suggest that administration of 25 mg TE is effective for micropenis in prepubertal boys with no SRD5A2 or AR mutation, with variable but significant PL increments, and that the penile responsiveness to TE therapy is independent of the V89L and the CAG repeat length polymorphisms.
我们报告了庚酸睾酮（TE）治疗小阴茎的阴茎长度（PL）反应，以及编码2型5α-还原酶的SRD5A2基因V89L多态性和编码雄激素受体的AR基因CAG重复长度多态性的相关性。
对53名0至13岁无SRD5A2或AR突变的日本小阴茎男孩（小于-2.0标准差）进行了检查。TE以25mg的剂量肌肉注射，注射后至少4周测量PL。通过直接测序确定这两种多态性。
TE治疗后所有男孩的PL均达到-2.0标准差或更高（4名男孩注射1次，28名注射2次，19名注射3次，2名注射4次），PL中位数显著增加（从2.5cm增至3.5cm，p<0.0001），标准差评分也显著增加（从-2.6增至-0.7，p<0.0001）。首次注射时实际PL的增加范围为0.2至1.5cm（中位数0.6），且与年龄（r = 0.22，p = 0.12）和体表面积（r = 0.11，p = 0.43）无关，而首次注射时PL标准差评分的增加范围为0.3至2.5（1.0），且与年龄（r = -0.33，p = 0.02）和体表面积（r = -0.37，p = 0.008）呈负相关。首次注射时实际PL的增加也与初始PL无关（r = -0.03，p = 0.81）。SRD5A2基因V/V、V/L和L/L基因型男孩首次注射时实际PL增加的中位数相似（分别为18名中的0.6cm、30名中的0.7cm和5名中的0.5cm，p = 0.77），AR基因CAG重复序列长（26个或更多）和非长重复序列男孩之间也相似（分别为6名中的0.65cm和47名中的0.6cm，p = 0.77）。此外，首次注射时实际PL增加与CAG重复长度之间无显著相关性（r = 0.06，p = 0.67）。
我们的结果表明，对于无SRD5A2或AR突变的青春期前小阴茎男孩，给予25mg TE有效，PL有不同但显著的增加，且阴茎对TE治疗的反应性与V89L和CAG重复长度多态性无关。
