Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

The hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome is an autosomal dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3. We investigated 21 HDR probands and 14 patients with isolated hypoparathyroidism for GATA3 abnormalities. Thirteen different heterozygous germline mutations were identified in patients with HDR.

Central and gonadal hypogonadism in X-linked lissencephaly.

Objective: To directly test gonadal function in a patient with X-linked lissencephaly with ambiguous genitalia (XLAG) in light of lack of previous functional data.

Study Design And Results: We studied an infant who failed to increase testosterone levels in response to hCG stimulation.

Conclusion: In XLAG, the gonads are not only structurally dysgenetic but also functionally abnormal.

Thyroid nodules and cancers in children.

Thyroid nodules are clinically evident in approximately 1% of children and about 30% of these are malignant. In addition to requiring appropriate surgery, thyroid hormone replacement in and follow-up monitoring of patients who are members of families with tumor syndromes must be studied for other components of these syndromes.

Endocrine manifestations of craniopharyngioma.

Rationale: Due to the proximity of craniopharyngiomas to the hypothalamus and pituitary gland, most children and adolescents presenting with these tumors will exhibit significant endocrine dysfunction. After treatment, these impairments can become a major cause of morbidity and mortality.

Methods: The postoperative course of children undergoing surgery for craniopharyngioma is reviewed.

Coordinating care for children with Turner syndrome.

Turner syndrome is a systemic disease requiring a multi-system management approach. This includes attention to the endocrine system, cardiovascular system, renal system, gastrointestinal system, ears, eyes, skeletal system, and skin, as well as to the psychology of the patient and the family. The primary care physician is central to the care of these patients.

Managing growth hormone treatment in pediatric patients.

In general, GH is a safe medication. Patients overwhelmingly enjoy its benefits. Infrequently, its side effects produce worrisome problems.

Evaluating short stature in children.

A child's growth reflects his or her general state of health. Growth deceleration therefore may result from processes that ultimately threaten much more than height and weight. Accurate height and weight measurements and routine plotting of growth data on standard growth charts are important elements of pediatric practice.