11/15/12 Re: Baby A Consultative Examination The above patient is an approximately fifteen month old female infant who

was seen in my office she was accompanied by her mother, Ms A. Ms A provided the medical information. Medical History Ms A stated that baby A was born with a chromosomal anomaly, later on identified as mosaic Turners syndrome, she provided documentation which revealed that the child was born with ambiguous genitalia, she was observed to have clitorimegaly shortly after birth and the initial assessment was thought to be congenital adrenal hyperplasia. She underwent a work up which included a chromosomal analysis and this revealed that the child had 45x/46 xiyp mosaicism. An abdominal sonogram revealed that the infant had a normal size uterus but absent ovaries, she also appeared to have a ureteropelvic junction obstruction. The records show further that Baby A underwent gonadectomy and clitoroplasty at Hospital X, Although she initially appeared to have mild hydronephrosis it appears that this resolved spontaneously Birth History Ms A says that the infant is a singleton term delivery, she was born to an X year old multipara at a hospital in USA, both the pregnancy and delivery were said to be uneventful. Development Baby A is able to walk alone, stoop to pick up a toy, say a word apart from Dada and Mama and follow a one step command, she can also jargon. All these milestones are achieved by the majority of children by the age of fifteen months. Family and Social History Essentially unremarkable according to the mother. Physical Examination Baby A presented as a well nourished, child, she was anicteric, afebrile and acyanosed, she was in no obvious respiratory distress. Vital Signs

Heart Rate 128/min Wt 18.8 lbs (25%ile) (50%ile) HEENT

Resp. Rate 28/min Ht 28.5(25 - 50%ile)

Temp 98.5F Head Circ. 18

Normocephalic, Pupils equal and reactive to light Normal tympanic membrane clear nasal exudate Pharynx Normal no obvious hyperemia Neck Supple, appears rather webbed Chest No obvious deformities, clear to auscultation Heart S1, S2 no murmurs Abdomen Full soft non tender, no sig palpable organomegaly Genitalia TSM I normal female external genitalia,prominent clitoris CNS Normal bulk and power in all limbs, no gross deficits MSS Free range of motion in all limbs Spine No obvious scoliosis Skin No obvious neurocutaneous stigmata Assessment 1) Intersex/Ambiguous genitalia also known as hermaphroditism 2) Chromosomal mosaicism Recommendations Baby A has already undergone the necessary surgery to remove the streak ovaries and open up the labial fusion that occurs to varying degrees in this condition ,she does not have any severe functional impairment at this time, although she was observed to toe walk and she appeared extremely irritable. I advised the mother to seek an Early Intervention evaluation for possible mild PDD (pervasive developmental disorder). Yours truly,