**5.4 Aarskog-Scott syndrome**

Aarkskog-Scott syndrome is an X-linked recessive disorder with genital, facial and skeletal abnormalities. Affected men also possess facial features including hypertelorism, eyelid ptosis, irregular auricular shape with prominently broad nasal bridge. Other features associated with Aarskog –scott syndrome are cryptorchidism, subfertility, mild cutaneous syndactyly [41].

#### **5.5 Kallmann syndrome**

Kallman syndrome affected ones show characteristic combination of anosmia and hypogonadotrophic hypogonadism [42]. Affected men show impaired secretion of GnRH (Gonadotrophic releasing hormone) with low concentration of follicle stimulating hormone (FSH) and testosterone. Some other complications of men suffering with Kallman syndrome are unilateral renal aplasia, mirror movements of extremities and pescavas. Unilateral renal aplasia is a commonly seen in affected men, kidney tends to be hypertrophied, ectopic and likely to contract infection. The

inheritance pattern of Kallmann syndrome is X-linked recessive in mo st families. Gene corresponding to KS (X –linked) is mapped to Xp22.3 with 200000 bp genomic DNA.

#### **5.6 Leydig cell hypoplasia**

Development of male genitals begins at the 9th week of gestation. Fetal leydig's cells are stimulated by human chorionic gonadotrophin (hCG) to secrete the male sex hormone testosterone [43]. With the progress in the pregnancy towards the later stage, the very function of hCG is taken over by luteinizing hormone. Leydig cell hypoplasia is a rare disorder in which the fetal leydig's cells turn insensitive to the hCG. It results in the feminization of the external genitials. LHCGR gene with eleven exons is found to be involved in it.

#### **5.7 XY gonadal dysgenesis**

XY gonadal dysgenesis also called as swyer syndrome. It is a type of hypogonadism with 46,XY karyotype. People with this syndrome have non-functional gonads. Affected ones are born with the appearance of a normal female on anatomical aspects with an exception of having non functional gonads [42] With their body producing no noticeable changes before puberty, defects in reproductive system remains unsuspected until no puberty is evident. Usually they are being considered as the girl child until they fail to have menstrual periods (primary amenorrhea). Major consequences of XY gonadal dysgenesis if left without treament are severe. Deprivation of estrogen in affected ones leads to the underdevelopment of breasts and uterus. Gonads miserably fail to produce progesterone and thereby lead to the unpredictable menstrual periods. Ovulation too is not seen, so conceiving children too is not possible unless and until there is an intervention [44].

#### **6. Recent reports**

The recent reports suggest the possibilities of undiagnosed but potentially treatable defects of male infertility. With adequate investment in the DNA, RNA and protein research, the percentage of the patients being classified as cases of idiopathic can be brought down.

#### **6.1 Advanced sperm tests**

Sperm owe various internal components that are very important for normal embryo development and pregnancy in general. Out of these internal features DNA is one of the primary to be discussed here, DNA is conventenally used to resolve the cause for the infertility when other examination or tests fail to deliver. At present, DNA is being evaluated in clinics in two different ways. Determining Y chromosome deletions (Y-micro deletion) and screening the appearance or chromosome numbers by karyotyping [45]. Only some abnormalities in sperm DNA can be diagnosed using these tests. So, additional DNA tests are eqally important for proper diagnostics. Other advanced tests analyze DNA: DNA fragmentation and oxidative stress. DNA fragmentation assessment can benefit couples that have not had success with previous IVF/ICSI cycles or have had repeated miscarriages.
