Familial male pseudohermaphroditism due to deficiency of 5 alpha-reductase.


:Two brothers of Greek Cypriot origin, karyotype 46 XY, aged 17 and 19 years were brought up as females because of predominantly female external genitalia with clitoromegaly and urogenital sinus. At puberty there was genital masculinization with testicular enlargment and descent and development of male musculature and body habitus without gynaecomastia. Both subjects acquired male gender identity and changed from a female to a male gender role. The internal genitalia were normally formed with an ejaculate containing mature spermatozoa. In both subjects plasma testosterone levels were slightly elevated, dihydrotestosterone was in the low normal range and the plasma testosterone to dihydrotestosterone ratio was markedly elevated. Plasma oestrogens were normal whereas SHBG binding capacity was elevated. The urinary 5 beta-aetiocholanolone to 5 alpha-androsterone ratios were elevated compared with normal subjects. Basal plasma LH was normal but, the LH response to LHRH was exaggerated and basal and peak plasma levels of FSH were elevated. 5 alpha-reductase activity in genital skin homogenates was higher when androstenedione was used as a substrate, compared with testosterone, suggesting a decreased affinity of the enzyme for testosterone. The clinical and hormonal features in the two siblings are consistent with an impaired peripheral conversion of testosterone to dihydrotestosterone due to deficiency of the enzyme 5 alpha-reductase.


Clin Endocrinol (Oxf)


Clinical endocrinology


Savage MO,Preece MA,Jeffcoate SL,Ransley PG,Rumsby G,Mansfield MD,Williams DI




Has Abstract


1980-04-01 00:00:00












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    abstract:OBJECTIVE:Reviewing the clinical outcomes of a large kindred with a RET p.Gly533Cys mutation, 10 years after the first description of this kindred, has provided an important set of clinical data for healthcare decision-making. DESIGN AND PATIENTS:We identified 728 RET533 Brazilian relatives, spread out over 7 generati...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Signorini PS,França MI,Camacho CP,Lindsey SC,Valente FO,Kasamatsu TS,Machado AL,Salim CP,Delcelo R,Hoff AO,Cerutti JM,Dias-da-Silva MR,Maciel RM

    更新日期:2014-02-01 00:00:00

  • Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency.

    abstract:OBJECTIVES:There is no licensed, dose-appropriate formulation of hydrocortisone for children with adrenal insufficiency (AI) and patients rely on compounded adult medication. The aim of this study was to evaluate the absorption, palatability and safety of Infacort® , an immediate-release, granule formulation of hydroco...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Neumann U,Whitaker MJ,Wiegand S,Krude H,Porter J,Davies M,Digweed D,Voet B,Ross RJ,Blankenstein O

    更新日期:2018-01-01 00:00:00

  • Comparison of serum vaspin levels and vaspin expression in adipose tissue and smooth muscle tissue in pregnant women with and without gestational diabetes.

    abstract:OBJECTIVE:Vaspin is associated with metabolic parameters and insulin resistance. However, the expression of vaspin in visceral adipose tissue (VAT) in pregnant women with gestational diabetes mellitus (GDM) has not been fully explored, and the contribution of vaspin to the biological mechanisms underlying GDM remains u...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Tang Y,Qiao P,Qu X,Bao Y,Li Y,Liao Y,Ying H

    更新日期:2017-10-01 00:00:00

  • Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.

    abstract:OBJECTIVE:Heterozygous inactivating mutations of the calcium-sensing receptor (CaR) gene cause familial hypocalciuric hypercalcaemia (FHH), a generally benign disorder characterized by mild to moderate PTH-dependent hypercalcaemia. We aimed to identify the causative CaR mutations in three families with FHH and examine ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Ward BK,Magno AL,Blitvich BJ,Rea AJ,Stuckey BG,Walsh JP,Ratajczak T

    更新日期:2006-05-01 00:00:00

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    abstract:OBJECTIVE:In the present study we have performed a grey-scale quantitative analysis of thyroid echogenicity in the patients affected by Hashimoto's thyroiditis (HT), obtaining a numerical estimate of the degree of hypoechogenicity associated with the appearance of thyroid dysfunction. MATERIALS AND METHODS:The study g...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Mazziotti G,Sorvillo F,Iorio S,Carbone A,Romeo A,Piscopo M,Capuano S,Capuano E,Amato G,Carella C

    更新日期:2003-08-01 00:00:00

  • Circulating thyroid cancer biomarkers: Current limitations and future prospects.

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章,评审


    authors: Nixon AM,Provatopoulou X,Kalogera E,Zografos GN,Gounaris A

    更新日期:2017-08-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Gicquel C,Leblond-Francillard M,Bertagna X,Louvel A,Chapuis Y,Luton JP,Girard F,Le Bouc Y

    更新日期:1994-04-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Walsh JP,Divitini ML,Knuiman MW

    更新日期:2013-06-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: León-Carrión J,Atutxa AM,Mangas MA,Soto-Moreno A,Pumar A,Leon-Justel A,Martín-Rodriguez JF,Venegas E,Domínguez-Morales MR,Leal-Cerro A

    更新日期:2009-02-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章,多中心研究


    authors: O'Reilly MW,Reulen RC,Gupta S,Thompson CA,Dineen R,Goulden EL,Bugg G,Pearce H,Toogood AA,Gittoes NJ,Mitchell R,Thompson CJ,Ayuk J

    更新日期:2016-11-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Fendler W,Borowiec M,Antosik K,Szadkowska A,Deja G,Jarosz-Chobot P,Mysliwiec M,Wyka K,Pietrzak I,Skupien J,Malecki MT,Mlynarski W

    更新日期:2011-09-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Bowes SB,Benn JJ,Scobie IN,Umpleby AM,Lowy C,Sönksen PH

    更新日期:1993-11-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Sarkar P,Bergman K,Fisk NM,O'Connor TG,Glover V

    更新日期:2007-05-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Evang JA,Borota OC,Melum E,Holm R,Ramm-Pettersen J,Bollerslev J,Berg JP

    更新日期:2010-08-01 00:00:00

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    pub_type: 杂志文章


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    更新日期:2016-11-01 00:00:00

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    pub_type: 杂志文章


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    更新日期:1993-06-01 00:00:00

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    pub_type: 杂志文章


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    更新日期:2010-03-01 00:00:00

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    pub_type: 杂志文章


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    更新日期:2015-02-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Gautier A,Bonnet F,Dubois S,Massart C,Grosheny C,Bachelot A,Aubé C,Balkau B,Ducluzeau PH

    更新日期:2013-03-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


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    更新日期:2015-01-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Moramarco J,El Ghorayeb N,Dumas N,Nolet S,Boulanger L,Burnichon N,Lacroix A,Elhaffaf Z,Gimenez Roqueplo AP,Hamet P,Bourdeau I

    更新日期:2017-03-01 00:00:00

  • Novel risk factors for hospital-acquired hyponatraemia: a matched case-control study.

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Beukhof CM,Hoorn EJ,Lindemans J,Zietse R

    更新日期:2007-03-01 00:00:00

  • The corticotropin-releasing hormone test in the diagnosis of ACTH-dependent Cushing's syndrome: a reappraisal.

    abstract:OBJECTIVE:Stimulation with corticotropin-releasing hormone (CRH) is one of principal tools for the differential diagnosis of ACTH-dependent Cushing's syndrome. However, different dosages and species of CRH may be employed; further, ACTH levels can be measured by radioimmunoassay (RIA) or immunoradiometric assay (IRMA)....

    journal_title:Clinical endocrinology

    pub_type: 杂志文章,多中心研究


    authors: Pecori Giraldi F,Invitti C,Cavagnini F,Study Group of the Italian Society of Endocrinology on the Pathophysiology of the Hypothalamic-pituitary-adrenal axis.

    更新日期:2001-05-01 00:00:00

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章,随机对照试验


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    更新日期:2008-03-01 00:00:00

  • A gonadotrophin responsive testosterone producing adrenocortical adenoma and high gonadotrophin levels in an elderly woman.

    abstract::A gonadotrophin response testosterone producing adrenal cortical adenoma in a 61-year-old woman is described. Oophorectomy was performed before adrenalectomy as at first an ovarian origin of excess and androgen production was suspected. The hypophyseal gonadal feedback system was studied after oophorectomy using LHRH ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: de Lange WE,Pratt JJ,Doorenbos H

    更新日期:1980-01-01 00:00:00

  • Thyroid dysfunction in patients with amyloid goitre.

    abstract:OBJECTIVES:Widespread amyloid deposition in the thyroid gland causes diffuse, clinically apparent enlargement of the thyroid (amyloid goitre: AG). The aim of this study was to clarify the abnormalities of thyroid function in patients with AG. DESIGN:Thirty patients with secondary amyloidosis were retrospectively analy...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Kimura H,Yamashita S,Ashizawa K,Yokoyama N,Nagataki S

    更新日期:1997-06-01 00:00:00

  • Effects of evening vs morning thyroxine ingestion on serum thyroid hormone profiles in hypothyroid patients.

    abstract:OBJECTIVE:Standard drug information resources recommend that l-thyroxine be taken half an hour before breakfast on an empty stomach, to prevent interference of its intestinal uptake by food or medication. We observed cases in which TSH levels improved markedly after changing the administration time of l-thyroxine to th...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Bolk N,Visser TJ,Kalsbeek A,van Domburg RT,Berghout A

    更新日期:2007-01-01 00:00:00

  • The evaluation of metabolic parameters and insulin sensitivity for a more robust diagnosis of the polycystic ovary syndrome.

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Amato MC,Galluzzo A,Finocchiaro S,Criscimanna A,Giordano C

    更新日期:2008-07-01 00:00:00

  • Insulin ameliorating endotoxaemia-induced muscle wasting is associated with the alteration of hypothalamic neuropeptides and inflammation in rats.

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    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Duan K,Yu W,Lin Z,Tan S,Bai X,Gao T,Xi F,Li N

    更新日期:2015-05-01 00:00:00

  • Heart rate variability in pubertal girls with type 1 diabetes: its relationship with glycaemic control, insulin resistance and hyperandrogenism.

    abstract:OBJECTIVE:To examine the association between glycaemic control, insulin resistance and hyperandrogenism on cardiac autonomic function in peripubertal girls with type 1 diabetes. DESIGN:Prospective, clinic-based study of 125 girls with diabetes and 46 age-matched nondiabetic girls. MEASUREMENTS:Heart rate variability ...

    journal_title:Clinical endocrinology

    pub_type: 杂志文章


    authors: Cho YH,Craig ME,Srinivasan S,Benitez-Aguirre P,Mitchell P,Jopling T,Donaghue KC

    更新日期:2014-06-01 00:00:00