Glanzmanns thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy (bleeding disorder due to a blood abnormality), in which the platelets contain defective or low levels of glycoprotein IIb/IIIa (GpIIb/IIIa), which is a receptor for fibrinogen. As a result, no fibrinogen bridging of platelets to other platelets can occur, and the bleeding time is significantly prolonged. Signs and symptoms
Characteristically, there is increased mucosal bleeding:
heavy menstrual bleeding
easy bruising
nosebleeds
Bleeding from the gums
gastrointestinal bleeding
postpartum bleeding
increased postoperative bleeding.The bleeding tendency is variable but may be severe. Bleeding into the joints, particularly spontaneous bleeds, are very rare, in contrast to the hemophilias. Platelet numbers and morphology are normal. Platelet aggregation is normal with ristocetin, but impaired with other agonists such as ADP, thrombin, collagen, or epinephrine. Cause
Glanzmanns thrombasthenia can be inherited in an autosomal recessive manner or acquired as an autoimmune disorder.The bleeding tendency in Glanzmanns thrombasthenia is variable, some individuals having minimal bruising, while others have frequent, severe, potentially fatal hemorrhages. Moreover, platelet αIIbβ3 levels correlate poorly with hemorrhagic severity, as virtually undetectable αIIbβ3 levels can correlate with negligible bleeding symptoms, and 10%–15% levels can correlate with severe bleeding. Unidentified factors other than the platelet defect itself may have important roles. Pathophysiology
Glanzmanns thrombasthenia is associated with abnormal integrin αIIbβ3, formerly known as glycoprotein IIb/IIIa (GpIIb/IIIa), which is an integrin  aggregation receptor on platelets. This receptor is activated when the platelet is stimulated by ADP, epinephrine, collagen, or thrombin.
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system
in the male or female. It is the atypical development of the gonads in an embryo,
with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.Gonadal development is a genetically controlled process by the chromosomal sex (XX or XY) which directs the formation of the gonad (ovary or testis).Differentiation of the gonads requires a tightly regulated cascade of genetic, molecular and morphogenic events. At the formation of the developed gonad, steroid production influences local and distant receptors for continued morphological and biochemical changes. This results in the appropriate phenotype corresponding to the karyotype (46,XX for females and 46,XY for males).Gonadal dysgenesis arises from the failure of signalling in this tightly regulated process during early foetal development.Manifestations of gonadal dysgenesis are dependent on the aetiology and severity of the underlying defect. Causes
Pure gonadal dysgenesis 46,XX also known as XX gonadal dysgenesis
Pure gonadal dysgenesis 46,XY also known as XY gonadal dysgenesis
Mixed gonadal dysgenesis also known as partial gonadal dysgenesis, and 45,X/46,XY mosaicism
Turner syndrome also known as 45,X or 45,X0
Endocrine disruptions

Pathogenesis
46,XX gonadal dysgenesis
46,XX gonadal dysgenesis is characteristic of female hypogonadism with a karyotype of 46,XX. Streak ovaries are present with non-functional tissues unable to produce the required sex steroid oestrogen.