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Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, and 735–743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning. [ABSTRACT FROM AUTHOR]

We report the case of a 23-month-old girl who presented with poor growth and delayed attainment of gross-motor milestones. Elevated creatine phosphokinase (CPK) indicated rhabdomyolysis, ultimately attributed to severe, acquired autoimmune hypothyroidism. Growth data and bone-age suggest the onset of hypothyroidism occurred at or before 12 months of age. Acquired hypothyroidism is rare before age 3 years, and rhabdomyolysis due to hypothyroidism has not previously been reported as a cause of delayed gross-motor development in toddlerhood. Despite the early onset of hypothyroidism, cognitive function appeared to be unaffected. Adequate thyroid hormone replacement quickly normalized the CPK in our patient, and gross motor development rapidly improved. Although rare, rhabdomyolysis secondary to hypothyroidism should be in the differential diagnosis of delayed gross-motor development in infancy and toddlerhood. [ABSTRACT FROM AUTHOR]