Ambiguous genitalia

Article Abstract:

Determining the sex of a newborn baby is usually a simple matter. Routine examination of the external genitalia will, in most cases, identify the sex of the infant. But when this is not a clear-cut decision, due to some birth defect, the gender identity must be rapidly, but carefully, assigned. If there are palpable sex organs in the genital region and an identifiable uterus, the gender assigned must be female, regardless of any phallic structure. These infants have a genetic defect in the Y chromosome or a translocation of the testis-determining factor to one of the X chromosomes. The specific diagnosis may be made by a Southern blot analysis. Any testicular tissue should be surgically removed to avoid virilization or growth of tumors in the future. Newborns without palpable gonads, but with a uterus, should be assigned the female gender. Virilization may be due to a variety of abnormalities. Babies without any palpable gonads or uterus, but with a phallic structure of at least 2 cm, should be assigned the male gender. If the phallus is inadequate or absent, the female gender should be assigned. This defect may require hormonal therapy or appropriate surgical intervention. Newborns with symmetrically descended gonads and no uterus should be assigned the male gender. In the presence of an anatomic defect, the baby should be examined for other organ malformations. Rapid gender assignment is critical to the proper care of the infant and the psychological well-being of the child and family. (Consumer Summary produced by Reliance Medical Information, Inc.)

Methods, Evaluation, Abnormalities, Birth defects, Sex determination, Diagnostic, Sex determination (Diagnosis), Reproductive organs, Genitalia

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Growth retardation: impaired height velocity

Article Abstract:

Adequate growth depends on nutrition, organ functioning and genetics. Changes in height and weight over a specific period of time are referred to as the growth velocity. A normal child may not grow for three months, but still exhibit a normal growth velocity for his/her age. Height growth velocity slows down by age three. Growth charts rank the lowest height velocity found in the normal population. Growth charts and genetic factors can determine individual height velocities. Thyroid and growth hormones, needed for growth, can improve low basal height velocity, desirable in a society where tall is considered better. Although synthetic growth hormone (GH) is now commercially available, it is unclear who will benefit from therapy. Additionally, physicians are faced with the ethical issues surrounding treatment of patients with familial short stature. Patients with GH deficiencies and poor growth velocities are known to benefit from GH therapy, but the chances of developing adverse effects from GH therapy are 1 in 2,400 over a 10-year period. Therefore, GH therapy for children with short stature who are not GH deficient should be prescribed with caution. Decisions regarding GH therapy in children are best left to qualified pediatric endocrinologists. (Consumer Summary produced by Reliance Medical Information, Inc.)

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Growth hormone treatment in children with sporadic primary microcephaly

Article Abstract:

Microcephaly, small head circumference, may also be associated with growth disturbances in some children. Microcephaly may or may not be associated with a decrease in growth hormone (GH). Commercially prepared synthetic growth hormone can be given to children with GH deficiency to improve growth. Three boys and one girl who were short in stature, but did not have classical GH deficiency had sporadic microcephaly and severe growth retardation. The four children were treated with GH to see if normal growth would resume. Growth velocity, a measurement of growth changes which occur over time, of two cm (0.78 inches) per year is considered adequate. All the children given GH therapy had improvement in growth velocity. One child, born small for gestational age, showed a slight reduction in GH secretion prior to therapy and had the least response to the GH, which could have been the result of a false positive GH test. The effect of GH therapy on final height is unknown. None of the children experienced side effects from the GH therapy. It is concluded that microcephalic children without overt GH deficiencies may also benefit from growth hormone therapy. (Consumer Summary produced by Reliance Medical Information, Inc.)

Health aspects, Somatotropin, Microcephaly

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