Endocrine Approach In Pws

Multidisciplinary approach in the management of PWS 1 st East European Conference Assoc . Prof. Corin Badiu & Maria Picu, Madalina Vintila, Simona Verzea Endocrine approach in PWS patient

Prader-Willi Syndrome... ,[object Object],[object Object],[object Object],[object Object],[object Object]

Diagnosis… ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Genetic testing…. ,[object Object],[object Object],[object Object],Doornbos M, et al. in press Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioral disturbances. Eur J Med Gen (2009),doi:10.1016/j.ejmg. 2009.03.010 Breaking news!!

Etiology of endocrine disorders in PWS? ▼ ,[object Object],[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],[object Object]

Endocrine changes in PWS ,[object Object],[object Object],[object Object],[object Object],[object Object]

Dysfunctions of hypothalamo – pituitary axis in PWS    ? ? ?

GH - What can go wrong? ,[object Object],[object Object],[object Object],[object Object],[object Object]

GH D- What can go wrong? Clinical features support the presence of GHD in PWS ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Stature in PWS 53 /1,10 BMI =19 80 /1,59 BMI =32 123/1,58 BMI =50 23 ys 110/1,49 BMI =51 27ys 135/1,53 BMI =59 56 /1,06 BMI =50 111/1,55 BMI =47 41/1,32 BMI =24

What should we do? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

The Hypothalamic-Pituitary-Gonadal Axis ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Hypogonadism in PWS few reports of pregnancy ! aware of the possible need for contraceptives is the rule Infertility ,[object Object],[object Object],No / delayed/ incomplete puberty Precocious puberty (4%) Isolated premature pubarche(14%) Disordered pubertal development ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Genital hypoplasia ♀ ♂

Gonadal values in our PWS patients 23 27 11 20 9 19 3 19 13 Age 57,47 0,08/1,94 F 42,4 nd/1,25 F 0,37 nd/1,1 M 0,55 1,19/2,27 M 10,75 nd/0,72 F 2,2 nd/0,16 F 0,15 nd/1,48 M 33,51 1,63/5,68 F 0,39 nd/0,01 M E 2 /testost (pg/mL)/(ng/mL) LH/FSH (mIU/mL) Sex

What should we do? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Food intake - What can go wrong? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

CRH/ACTH - What can go wrong? ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Adrenal axis in PWS Obesity  Hypercortisolism PWS  Central hypocorticism

TRH/TSH - What can go wrong? ,[object Object],[object Object],[object Object],[object Object],[object Object]

In conclusion... ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

Endocrine Approach In Pws

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Endocrine Approach In Pws

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