Syndromal (and nonsyndromal) forms of male pseudohermaphroditism

Normal male development requires three conditions: (1) adequate differentiation of the fetal testis; (2) synthesis and secretion of testicular hormones; and (3) effective action of these hormones on target organs. This requires the combined action of the inhibitory anti-müllerian hormone (AMH, secreted by Sertoli cells) to block the development of the uterus and fallopian tubes from the müllerian duct, together with the trophic stimulus of testosterone (a Leydig cell product), which leads to virilization of the wolffian ducts. Additionally, the development of external genitalia depends on the conversion of testosterone to dihydrotestosterone by the enzyme 5-α-reductase. Failure of any of these mechanisms leads to deficient virilization or the so-called "male pseudohermaphroditism" syndromes.

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“…The gene is located at Xp22. 3 and results from mutations in the RING finger protein MIDI (midline-1) gene [239,[249][250][251].…”

Section: Smith-lemli-opitz Syndrome (Rsh Syndrome)mentioning

confidence: 52%

“…Numerous milder anomalies are found in SLOS. Most patients have neurological developmental delay and severe behavioral problems [239].…”

Section: Smith-lemli-opitz Syndrome (Rsh Syndrome)mentioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization

et al. 2015

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Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: Third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies

Silengo

Monaco

Linari³

et al. 2001

Am. J. Med. Genet.

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We report on two sisters, one 46,XX with normal female phenotype, the other 46,XY with ambiguous external genitalia and agonadism. Both have a low birth weight and microcephalic malformation syndrome leading to early death. The 46,XX patient also had a diaphragmatic defect. The XY sister, in addition to absence of gonads and Mùllerian and Wolffian derivatives, had severe hypoplasia of the pulmonary artery and its branches, multicystic kidneys, and pachygyria. This combination of malformations, in part, fits in the autosomal recessive condition described by Kennerknecht et al. [1993] in a 46,XX and 46,XY pair of sibs with agonadism. The craniofacial appearance of our patients is similar to that observed in the 46,XY sister with agonadism reported by Kennerknecht et al. [1995]. On the other hand, intrauterine growth retardation, microcephaly, and pachygyria are not part of the phenotype of the Kennerknecht "syndrome" and agonadism was not present in our 46,XX patient. We suggest two hypotheses to explain the abnormal phenotype in our cases. The first is that they might represent the third sibship affected by the Kennerknecht syndrome with additional anomalies. Alternatively, our two sibs might have a Seckel or a Seckel-like syndrome. The 46,XY patient would then be the first case of Seckel syndrome with sex reversal and agonadism.

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