Inherited congenital normofunctional testicular hyperplasia and mental deficiency

Jm, Cantú; He, Scaglia; González-Diddi, M; Hernández-Jáuregui, P; Morato, T; Me, Moreno; J, Giner; Alcántar, A; Herrera, David; Pérez‐Palacios, Gregorio

doi:10.1007/bf00284767

Cited by 47 publications

(14 citation statements)

References 3 publications

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“…Measurements of height, head circumference, inner canthal and interpupillary distances, testicular volume, and ear length were obtained as part of the examination. Testicular volume was measured using the Prader Orchidometer (when testes were <25 ml in volume) and by calculation (a/6 X 1 X w2, Cantu et al, 1976). Psychological testing, medical history, medications, and other information were obtained through medical records and interviews of living relatives.…”

Section: Discussionmentioning

confidence: 99%

A new X‐linked mental retardation syndrome

Atkin

Flaitz

Patil³

et al. 1985

Am. J. Med. Genet.

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We have studied a three-generation family with 11 moderately to severely retarded males and three mildly retarded females (presumably manifesting carriers). The patients have a phenotype different from that of all other previously described types of X-linked MR (XLMR). These include short stature, macrocephaly, "coarse" facial appearance including prominent forehead and supraorbital ridges, hypertelorism, broad nasal tip with anteverted nostrils, and thick lips. All postpubertal males had macroorchidism (volume greater than 25 ml). Chromosomes were normal including fragile X analysis. X-ray findings of skull, spine, and hands were normal. The intellectually normal relatives do not resemble their affected relatives except for increased head size and testicular size. These findings suggest a new variant of XLMR different from fragile X-linked MR, the Coffin-Lowry syndrome, and other XLMR conditions.

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Section: Discussionmentioning

confidence: 99%

A new X‐linked mental retardation syndrome

Atkin

Flaitz

Patil³

et al. 1985

Am. J. Med. Genet.

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“…The fra(X) is not seen in every cell of an affected male, and the frequency of its appearance depends on the cell type and culturing conditions. X-linked mental retardation associated with marco-orchidism was first reported by Escalante et a1 [1971] and confirmed by others [Turner et al, 1975;Cantu et al, 1976;Ruvalcaba et al, 19771. These males had normal germinal and endocrine function.…”

Section: Introductionmentioning

confidence: 99%

Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome

Howard‐Peebles

Finley

Opitz³

1983

Am. J. Med. Genet.

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Four hundred forty-four male residents of a state mental retardation institution were screened for macro-orchidism. Twenty-six white males (8.3%) and two black males (1.5%) had marked macro-orchidism (greater than 34 ml). Seven of 17 whites tested for the fragile X were positive; the one black tested was negative. Thus, a minimum of 7/26 or 27% (whites) are fragile X positive indicating potential population variability, also evident from previous reports. Concurrent testing of institutionalized brother pairs indicated over half of the fragile X-positive males had a strong family history consistent with X-linked mental retardation.

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“…Testicular length (1) and width (w) were measured with sliding calipers. Testicular volume (V) was calculated according to the formula of Cantu et al (1976): V=7r/6xlxw.^ The testicular volumes of 817 (non-Down's syndrome) institutionalized adult males were calculated. These males were subsequently grouped into three categories based on their testicular volumes:…”

Section: Methodsmentioning

confidence: 99%

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

Kirkilionis

Pozsonyi

Sergovich

1988

J intellect Disabil Res

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ABSTRACT. The testicular volumes (V) of 817 adult (non‐Down's syndrome) institutionalized males were calculated. The mean testicular volume was 19.5±15.8 ml, comparable to the normal adult male mean of 17–19 ml. However, the number of institutionalized males with V≤25 ml and V≤10 ml was increased approximately fourfold over the normal male population. Resident adult males were grouped into three categories based on their testicular volumes: (1) V≤25 ml (macro‐orchid); (2) V≤15 ml (micro‐orchid); and (3) 15 < V < 25 ml (‘normal’). An equal number of randomly selected males from each category were cytogenetically screened for the fra(X) syndrome as well as for non‐fra(X) chromosome abnormalities. The overall frequencies of these disorders were 3.1% and 3.9%, respectively. The fra(X) syndrome was found in a significantly higher percentage of macro‐orchid males (10.3%) as compared to males with either micro‐orchidism (1.2%) or normal testicular volume (1.2%). There was no significant difference in the distribution of either fra(X) negative non‐specific XLMR or non‐fra(X) chromosome abnormalities among resident males from these three categories. Testicular volumes ≥25 ml, especially those exceeding 40 ml, were thus shown to be useful clinical markers in the diagnosis of the fra(X) syndrome. Reduced testicular volume was not a useful clinical marker in the evaluation of other non‐Down's syndrome chromosome abnormalities.

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Inherited congenital normofunctional testicular hyperplasia and mental deficiency

Cited by 47 publications

References 3 publications

A new X‐linked mental retardation syndrome

A new X‐linked mental retardation syndrome

Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome

The use of testicular volume as a clinical marker for cytogenetic disorders in mentally retarded males

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