BackgroundA newborn with ambiguous genitalia needs prompt evaluation to detect life-threatening conditions (e.g., salt-losing crisis in congenital adrenal hyperplasia [CAH]) and gender assignment. Sex assignment in these children continues to be a challenging diagnostic and therapeutic problem. We studied the causes and characteristics of ambiguous genitalia in children who were referred to a cytogenetic laboratory.Patients and MethodsWe retrospectively reviewed a total of 120 medical records of patients with a primary indication of ambiguous genitalia that were referred to the cytogenetic lab for karyotyping during the period of 1989 to 1999. Diagnosis was based on a clinical impression from the primary physician, who was primarily a staff pediatrician, endocrinologist and/or pediatric urologist.ResultsCAH was the underlying cause of ambiguous genitalia in 41 of 63 patients with ambiguity due to endocrine causes; 39 of these patients showed a 46,XX karyotype and 2 cases were 46,XY (both the 46,XY patients had 3 β-hydroxylase deficiency). In 57 patients, ambiguous genitalia were due to congenital developmental defects. The most common endocrine case of ambiguous genitalia was 21-OH deficiency. Seven patients were classified as idiopathic with six showing the 46,XY and one the 46,XX karyotype. Gender was reassigned at birth or at diagnosis in 15 patients.ConclusionThe etiology of ambiguous genitalia is variable. The physician managing these families could minimize the trauma of having a child with unidentified sex by providing appropriate genetic counseling so that the parents can make an early decision. Prenatal DNA testing in at-risk families should be considered and appropriate therapy offered to minimize or prevent genital ambiguity.

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Case Report 85 microsomes) was in the normal range (69nmol/min per mg protein). Fructose-l,6-biphosphatase was also normal (43.5 nmol/min per mg protein; normal range 20-50). The fact that phosphorylase a activity in liver tissue was very low supports the supposition that in this patient phosphorylase kinase activity in liver was low.The child seemed well between the hypoglycaemic episodes. His height and weight were on the 50th centile and the motor development was normal. At seven months of age he was brought to hospital with severe hypoglycaemic convulsions and cardiac arrest occurred. There was no response to cardiopulmonary rescucitation and he died.We wish to stress two important points: first, different cell types have to be investigated for the precise diagnosis of hepatic phosphorylase kinase deficiency; and second, X-linked hepatic phosphorylase kinase deficiency with normal enzyme activity in blood cells must be taken into consideration in the differential diagnosis of severe recurrent hypoglycaemia beginning in the neonatal period. REFERENCES

Insulin-dependent diabetes mellitus (IDDM) in childhood and adolescence presents a formidable challenge to pediatric health care providers. On one hand, the severe degree of insulin deficiency compared to NIDDM and the physical and psychoemotional changes that accompany normal growth and development make day-to-day management of this condition especially difficult. On the other hand, results of the Diabetes Control and Complications Trial (DCCT) have shown that the degree of metabolic control that is achieved in adolescents and adults with IDDM has a great impact on the prognosis regarding the onset and progression of microvascular complications.12 This paper will review the background, rationale, design and results of the DCCT, as well as the impact of DCCT findings on the current approach to treatment of adolescents with IDDM. Historical PerspectiveThe discovery of insulin by Banting and Best in the early 1920s was hailed as a "cure" of diabetes, changing a terminal diagnosis into a treatable condition. As children with diabetes survived into adulthood, it did not take long to discover that they faced a variety of devastating degenerative complications, such as those originally described in the kidney by Kimmelstiel and Wilson in 1936. 3 Indeed, IDDM is a leading cause of blindness, end-stage renal disease, peripheral and automatic neuropathy and early onset of coronary, cerebral and peripheral vascular disease. For almost 60 years, clinicians argued about whether better control of hyperglycemia could prevent or delay the development of diabetes-related complications (i.e., the glucose hypothesis).Major obstacles stood in the way of testing the glucose hypothesis, including practical and logistical difficulties in performing a large-scale clinical trial over a prolonged period of time. In addition, clinicians were limited in attempting to safely lower plasma glucose levels using one or two daily insulin injections with urine glucose testing to monitor glucose control. Moreover, there simply wasn't any way to quantitate the level of glycemia in individual patients or groups of patients over time, using urine glucose and rare plasma glucose measurements.

The aim of this report is to describe four cases of non‐autoimmune diabetes that presented in infancy. Three had transient neonatal diabetes mellitus (TNDM) with diabetic ketoacidosis at onset, followed by complete remission after several months of insulin treatment. While the fourth case was initially diagnosed as TNDM, she had renal, hepatic and pancreatic dysplasia. These cases illustrate that diabetes in infants can be difficult to diagnose and that patients with TNDM can have a recurrence of diabetes several years later.