Endocrine Abstracts (2009) 20 P319

Dwarfism and female extenal genitalia due to congenital partial hypopituitarism in a 46XY Seckel syndrome with microcephaly and multiple skeletal deformities

Nur Kebapci1, Belgin Efe1, Ayten Yakut2, Baki Adapinar3 & Hikmet Basmak4

1Department of Endocrinology, Eskisehir Osmangazi University, Eskisehir, Turkey; 2Department of Pediatric Neurology, Eskisehir Osmangazi University, Eskisehir, Turkey; 3Department of Radiology, Eskisehir Osmangazi University, Eskisehir, Turkey; 4Department of Ophthalmology, Eskisehir Osmangazi University, Eskisehir, Turkey.

Seckel syndrome (SS) is a rare disorder of severe growth retardation and craniofacial-skeletal abnormalities. In scant number of reports, neonates had intact hypothalamic–pituitary–adrenal axis before they die because of cardiopulmonary abnormalities. We present an unique case of SS at the age of 18 years and discuss the possible explanations of his growth retardation and sex reversal.

Case: A 18-year-old female presented with short stature and primary amenorrhea. There were first degree consanguinity between parents. At birth, she was small for gestational age. She couldn’t walk and speak until the ages of 6 and 10 years, respectively. Physical examination: central obesity (17 kg, 107 cm), mental retardation, microcephaly, bird head-like facial dysmorphism, corneal opasity, syndactily, female external genitalia. Her height and bone ages were consistent with 5 and 10 years-old, respectively. Hormonal analyses: GH and IGF-1 were low; GH and cortisol responses to insulin tolerance test showed GH deficiency and normal cortisol response. Testosterone and estrodiol levels were low with inadequately low levels of LH. Testosterone response to LH-RH was markedly increased. Chromosomal analysis: 46XY (SRY+). Pelvic US revealed a blinded vagina and absence of gonads and internal genitalia. Brain MRI: cerebral and cerebellar atrophy and cortical dysplasia. He was diagnosed with SS with partial hypopituitarism. We evaluated that the dwarfism was related to congenital GH deficiency. He had also gonadotropin deficiency. In early fetal life, normal male karyotype directed the development of gonads to testis as Müllerian duct development was inhibited. However, because of LH deficiency, gonads might be regressed. Testosterone is essential in developing male external genitalia, its deficiency causes sex reversal as in our case. Moreover, the existence of testis supported by LH-RH test, is another assignment for us to locate. Our case had a CNS developmental pathology, with endocrine insufficiency unlike reported cases.

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