Medical College of Wisconsin
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Patricia Donohoue MD

Emeritus Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Pediatrics Endocrinology

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Publications (59)

  • 46,XX DSD (Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3503-3514.e1 SCOPUS ID: 2-s2.0-85206230683 01/01/2024    
  • Ovotesticular DSD (Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3503-3514.e1 SCOPUS ID: 2-s2.0-85206233554 01/01/2024    
  • SEX DIFFERENTIATION (Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3503-3514.e1 SCOPUS ID: 2-s2.0-85206227418 01/01/2024    
  • 46,XY DSD (Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3503-3514.e1 SCOPUS ID: 2-s2.0-85206233877 01/01/2024    
  • Development and Function of the Gonads (Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3481-3487.e1 SCOPUS ID: 2-s2.0-85206233968 01/01/2024    
  • Hypergonadotropic Hypogonadism in the Female (Primary Hypogonadism) (Kansra AR, Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3496-3501.e2 SCOPUS ID: 2-s2.0-85206227178 01/01/2024    
  • Pseudoprecocity Resulting from Lesions of the Ovary (Kansra AR, Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3502-3503.e1 SCOPUS ID: 2-s2.0-85206230301 01/01/2024    
  • Pseudoprecocity Resulting from Tumors of the Testes (Ali O, Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3494-3494 SCOPUS ID: 2-s2.0-85206225780 01/01/2024    
  • Hypogonadotropic Hypogonadism in the Male (Secondary Hypogonadism) (Ali O, Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3487-3494.e2 SCOPUS ID: 2-s2.0-85206226390 01/01/2024    
  • Gynecomastia (Ali O, Donohoue PA) Nelson Textbook of Pediatrics Volume 1 2 1 January 2024:3495-3496.e1 SCOPUS ID: 2-s2.0-85206222819 01/01/2024    
  • Disorders of Sex Development (Donohoue PA) Nelson Pediatric Symptom Based Diagnosis Common Diseases and their Mimics 1 January 2022:431-449.e2 SCOPUS ID: 2-s2.0-85199107481 01/01/2022       1 Citation
  • Disorders of the Body Mass (Ali O, Kansra A, Donohoue PA) Emery and Rimoins Principles and Practice of Medical Genetics and Genomics Metabolic Disorders 1 January 2020:1-24 SCOPUS ID: 2-s2.0-85147598050 01/01/2020    
  • Disorders of Sex Development (Donohoue PA) Nelson Pediatric Symptom Based Diagnosis 2018:348-366.e2 SCOPUS ID: 2-s2.0-85054365070 01/01/2018    
  • Disorders of Sex Development (Donohoue PA) Nelson Pediatric Symptom Based Diagnosis 1 January 2017:348-366.e2 SCOPUS ID: 2-s2.0-85140671839 01/01/2017    
  • A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. (Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC) Hum Mol Genet 2016 Dec 01;25(23):5286 PMID: 28031288 PMCID: PMC5886042 SCOPUS ID: 2-s2.0-85016044077 12/30/2016       27 Citations
  • A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. (Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B, Members of UDN, Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC) Hum Mol Genet 2016 Aug 15;25(16):3446-3453 PMID: 27378692 PMCID: PMC5179941 SCOPUS ID: 2-s2.0-85014386106 07/06/2016       99 Citations
  • Impact of Age at Diagnosis and Hypothalamic Involvement on Body Mass Index Z-Score Change in Pediatric Brain Tumor Survivors. (Strobel K, Simpson P, Donohoue PA, Firat S, Jogal S) Horm Res Paediatr 2016;85(6):389-95 PMID: 27255491 SCOPUS ID: 2-s2.0-84973548054 06/04/2016       1 Citation
  • Perception and documentation of weight management practices in pediatric primary care. (Chelvakumar G, Levin L, Polfuss M, Hovis S, Donohoue P, Kotowski A) WMJ 2014 Aug;113(4):149-53; quiz 154 PMID: 25211802 SCOPUS ID: 2-s2.0-84906230155 09/13/2014       15 Citations
  • Recognition and treatment of concurrent active and neurodegenerative langerhans cell histiocytosis: a case report. (Ehrhardt MJ, Karst J, Donohoue PA, Maheshwari M, McClain KL, Bingen K, Kelly ME) J Pediatr Hematol Oncol 2015 Jan;37(1):e37-40 PMID: 24322503 SCOPUS ID: 2-s2.0-84920602594 12/11/2013       8 Citations
  • Disorders of the Body Mass (Donohoue PA, Ali O) Emery and Rimoin S Principles and Practice of Medical Genetics 1 January 2013:1-37 SCOPUS ID: 2-s2.0-84882796196 01/01/2013       1 Citation
  • Predictors of first-year growth response to a fixed-dose growth hormone treatment in children born small for gestational age: results of an open-label, multicenter trial in the United States. (Rapaport R, Saenger P, Wajnrajch MP, Pfizer SGA Collaborative Study Group) J Pediatr Endocrinol Metab 2008 May;21(5):411-22 PMID: 18655522 SCOPUS ID: 2-s2.0-46049106960 07/29/2008       10 Citations
  • Summary of consensus statement on intersex disorders and their management. International Intersex Consensus Conference. (Houk CP, Hughes IA, Ahmed SF, Lee PA, Writing Committee for the International Intersex Consensus Conference Participants) Pediatrics 2006 Aug;118(2):753-7 PMID: 16882833 SCOPUS ID: 2-s2.0-33748422544 08/03/2006       206 Citations
  • Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. (Lee PA, Houk CP, Ahmed SF, Hughes IA, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology) Pediatrics 2006 Aug;118(2):e488-500 PMID: 16882788 SCOPUS ID: 2-s2.0-33748439007 08/03/2006       1276 Citations
  • A neonatal form of isolated ACTH deficiency frequently associated with Tpit gene mutations. (Vallette-Kasic S, Pulichino AM, Gueydan M, Barlier A, David M, Malpuech G, Deal C, Van Vliet G, de Vroede M, Riepe F, Partsch CJ, Sippell W, Berberoglu M, Atasay B, de Zegher F, Kyllo J, Donohoue P, Dechelotte P, Fassnacht M, Noordam K, Dunkel L, Pigeon B, Weill J, Yigit S, Brauner R, Leger J, Heinrich JJ, Enjalbert A, Brue T, Drouin J) Endocr Res 2004 Nov;30(4):943-4 PMID: 15666849 SCOPUS ID: 2-s2.0-19944428665 01/26/2005       8 Citations
  • Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. (Vallette-Kasic S, Brue T, Pulichino AM, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enjalbert A, Drouin J) J Clin Endocrinol Metab 2005 Mar;90(3):1323-31 PMID: 15613420 SCOPUS ID: 2-s2.0-20144388457 12/23/2004       121 Citations
  • Deep venous thrombosis and Turner syndrome. (Jobe S, Donohoue P, Di Paola J) J Pediatr Hematol Oncol 2004 Apr;26(4):272 PMID: 15087960 SCOPUS ID: 2-s2.0-16544383820 04/17/2004       12 Citations
  • Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. (Donohoue PA, Tao YX, Collins M, Yeo GS, O'Rahilly S, Segaloff DL) J Clin Endocrinol Metab 2003 Dec;88(12):5841-5 PMID: 14671178 SCOPUS ID: 2-s2.0-0347993151 12/13/2003       39 Citations
  • A meta-analytic investigation of linkage and association of common leptin receptor (LEPR) polymorphisms with body mass index and waist circumference. (Heo M, Leibel RL, Fontaine KR, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Gropp E, Allison DB) Int J Obes Relat Metab Disord 2002 May;26(5):640-6 PMID: 12032747 SCOPUS ID: 2-s2.0-18344396039 05/29/2002       112 Citations
  • Pooling analysis of genetic data: the association of leptin receptor (LEPR) polymorphisms with variables related to human adiposity. (Heo M, Leibel RL, Boyer BB, Chung WK, Koulu M, Karvonen MK, Pesonen U, Rissanen A, Laakso M, Uusitupa MI, Chagnon Y, Bouchard C, Donohoue PA, Burns TL, Shuldiner AR, Silver K, Andersen RE, Pedersen O, Echwald S, Sørensen TI, Behn P, Permutt MA, Jacobs KB, Elston RC, Hoffman DJ, Allison DB) Genetics 2001 Nov;159(3):1163-78 PMID: 11729160 PMCID: PMC1461868 SCOPUS ID: 2-s2.0-18244362591 12/01/2001       60 Citations
  • Sympathetic inhibition, leptin, and uncoupling protein subtype expression in normal fasting rats. (Sivitz WI, Fink BD, Morgan DA, Fox JM, Donohoue PA, Haynes WG) Am J Physiol 1999 Oct;277(4):E668-77 PMID: 10516126 SCOPUS ID: 2-s2.0-0032713705 10/12/1999       53 Citations
  • Premature sexual development in individuals with neurodevelopmental disabilities. (Siddiqi SU, Van Dyke DC, Donohoue P, McBrien DM) Dev Med Child Neurol 1999 Jun;41(6):392-5 PMID: 10400173 SCOPUS ID: 2-s2.0-0033058958 07/10/1999       76 Citations
  • Fasting and leptin modulate adipose and muscle uncoupling protein: divergent effects between messenger ribonucleic acid and protein expression. (Sivitz WI, Fink BD, Donohoue PA) Endocrinology 1999 Apr;140(4):1511-9 PMID: 10098482 SCOPUS ID: 2-s2.0-0032980686 03/31/1999       99 Citations
  • Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. (Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL) J Clin Endocrinol Metab 1999 Feb;84(2):504-11 PMID: 10022408 SCOPUS ID: 2-s2.0-0032977119 02/18/1999       165 Citations
  • Plasma leptin in diabetic and insulin-treated diabetic and normal rats. (Sivitz WI, Walsh S, Morgan D, Donohoue P, Haynes W, Leibel RL) Metabolism 1998 May;47(5):584-91 PMID: 9591751 SCOPUS ID: 2-s2.0-0031946765 05/20/1998       65 Citations
  • E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (Kirby-Keyser L, Porter CC, Donohoue PA) Hum Mutat 1997;9(2):181-2 PMID: 9067760 SCOPUS ID: 2-s2.0-0030893822 01/01/1997       12 Citations
  • Phenotypic evolution of classic 21-hydroxylase deficiency. (Hoffman WH, Shin MY, Donohoue PA, Helman SW, Brown SL, Rosculet G, Mahesh VB) Clin Endocrinol (Oxf) 1996 Jul;45(1):103-9 PMID: 8796146 SCOPUS ID: 2-s2.0-0030011162 07/01/1996       6 Citations
  • Linkage of congenital isolated adrenocorticotropic hormone deficiency to the corticotropin releasing hormone locus using simple sequence repeat polymorphisms. (Kyllo JH, Collins MM, Vetter KL, Cuttler L, Rosenfield RL, Donohoue PA) Am J Med Genet 1996 Mar 29;62(3):262-7 PMID: 8882784 SCOPUS ID: 2-s2.0-0029985387 03/29/1996       31 Citations
  • Rat adipose ob mRNA levels in states of altered circulating glucose and insulin. (Sivitz WI, Bailey HL, Donohoue P) Biochem Biophys Res Commun 1996 Mar 27;220(3):520-5 PMID: 8607798 SCOPUS ID: 2-s2.0-0029977866 03/27/1996       37 Citations
  • Constitutive human steroid 21-hydroxylase promoter gene and pseudogene activity in steroidogenic and nonsteroidogenic cells with the luciferase gene as a reporter. (Kyllo JH, Collins MM, Donohoue PA) Endocr Res 1995 Nov;21(4):777-91 PMID: 8582328 SCOPUS ID: 2-s2.0-0028862514 11/01/1995       10 Citations
  • The HLA-A3, Cw6,B47,DR7 extended haplotypes in salt losing 21-hydroxylase deficiency and in the Old Order Amish: identical class I antigens and class II alleles with at least two crossover sites in the class III region. (Donohoue PA, Guethlein L, Collins MM, Van Dop C, Migeon CJ, Bias WB, Schmeckpeper BJ) Tissue Antigens 1995 Sep;46(3 ( Pt 1)):163-72 PMID: 8525475 SCOPUS ID: 2-s2.0-0029151312 09/01/1995       9 Citations
  • A new way to seal glass plates for denaturing gradient gel electrophoresis. (Kyllo JH, Kirby-Keyser L, Donohoue PA, Porter CC) Biotechniques 1994 May;16(5):792 PMID: 8068325 SCOPUS ID: 2-s2.0-0028350212 05/01/1994       1 Citation
  • The human complement C4B/steroid 21-hydroxylase (CYP21) and complement C4A/21-hydroxylase pseudogene (CYP21P) intergenic sequences: comparison and identification of possible regulatory elements. (Donohoue PA, Collins MM) Biochem Biophys Res Commun 1992 Jul 15;186(1):256-62 PMID: 1385946 SCOPUS ID: 2-s2.0-0026707238 07/15/1992       8 Citations
  • Pituitary gigantism caused by growth hormone excess from infancy. (Gelber SJ, Heffez DS, Donohoue PA) J Pediatr 1992 Jun;120(6):931-4 PMID: 1593354 SCOPUS ID: 2-s2.0-0026589440 06/01/1992       31 Citations
  • Accelerated growth rates in children treated with growth hormone after renal transplantation. (Van Dop C, Jabs KL, Donohoue PA, Bock GH, Fivush BA, Harmon WE) J Pediatr 1992 Feb;120(2 Pt 1):244-50 PMID: 1735820 SCOPUS ID: 2-s2.0-0026597315 02/01/1992       75 Citations
  • Reply (Jabs KL, Harmon WE, Van Dop C, Donohoue PA, Bock GH, Fivish BA) Journal of Pediatrics October 1992;121(4):665-666 SCOPUS ID: 2-s2.0-58149208423 01/01/1992    
  • Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems. (Migeon CJ, Donohoue PA) Endocrinol Metab Clin North Am 1991 Jun;20(2):277-96 PMID: 1879400 SCOPUS ID: 2-s2.0-0026045042 06/01/1991       22 Citations
  • Glucose tolerance in children with renal allografts and effect of growth hormone treatment. (Van Dop C, Donohoue PA, Jabs KL, Bock GH, Fivush BA, Harmon WE) J Pediatr 1991 May;118(5):708-14 PMID: 2019924 SCOPUS ID: 2-s2.0-0025819189 05/01/1991       15 Citations
  • Exon 7 Ncol restriction site within CYP21B (steroid 21-hydroxylase) is a normal polymorphism. (Donohoue PA, Sandrini Neto R, Collins MM, Migeon CJ) Mol Endocrinol 1990 Sep;4(9):1354-62 PMID: 1978247 SCOPUS ID: 2-s2.0-0025066445 09/01/1990       14 Citations
  • Endocrine evaluation of adults with mild hypospadias. (Gearhart JP, Donohoue PA, Brown TR, Walsh PC, Berkovitz GD) J Urol 1990 Aug;144(2 Pt 1):274-7 PMID: 2115596 SCOPUS ID: 2-s2.0-0025118076 08/01/1990       26 Citations
  • Enhanced growth with growth hormone therapy after renal transplantation. (Van Dop C, Donohoue PA, Bock GH, Ruley J) Pediatr Nephrol 1989 Oct;3(4):468-9 PMID: 2642119 SCOPUS ID: 2-s2.0-0024745318 10/01/1989       11 Citations
  • Two distinct areas of unequal crossingover within the steroid 21-hydroxylase genes produce absence of CYP21B. (Donohoue PA, Jospe N, Migeon CJ, Van Dop C) Genomics 1989 Oct;5(3):397-406 PMID: 2613228 SCOPUS ID: 2-s2.0-0024742542 10/01/1989       43 Citations
  • Serum 3 alpha-androstanediol glucuronide measurements in sexually mature women with congenital adrenal hyperplasia during therapy. (Reiner BJ, Donohoue PA, Migeon CJ, Berkovitz GD) J Clin Endocrinol Metab 1989 Jul;69(1):105-9 PMID: 2732292 SCOPUS ID: 2-s2.0-0024403761 07/01/1989       13 Citations
  • Restriction fragment analysis of duplication of the fourth component of complement (C4A). (McLean RH, Donohoue PA, Jospe N, Bias WB, Van Dop C, Migeon CJ) Genomics 1988 Jan;2(1):76-85 PMID: 2838414 SCOPUS ID: 2-s2.0-0023739741 01/01/1988       10 Citations
  • Coupling of HLA-A3,Cw6,Bw47,DR7 and a normal CA21HB steroid 21-hydroxylase gene in the Old Order Amish. (Donohoue PA, Van Dop C, Migeon CJ, McLean RH, Bias WB) J Clin Endocrinol Metab 1987 Nov;65(5):980-6 PMID: 2822757 SCOPUS ID: 2-s2.0-0023638609 11/01/1987       6 Citations
  • Prevalence of polymorphic 21-hydroxylase gene (CA21HB) mutations in salt-losing congenital adrenal hyperplasia. (Jospe N, Donohoue PA, Van Dop C, McLean RH, Bias WB, Migeon CJ) Biochem Biophys Res Commun 1987 Feb 13;142(3):798-804 PMID: 3030300 SCOPUS ID: 2-s2.0-0023124857 02/13/1987       29 Citations
  • Female pseudohermaphroditism (Donohoue PA, Berkovitz GD) Seminars in Reproductive Endocrinology 1987;5(3):233-241 SCOPUS ID: 2-s2.0-0023195367 01/01/1987       1 Citation
  • Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. (Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ) J Clin Endocrinol Metab 1986 May;62(5):995-1002 PMID: 3007562 SCOPUS ID: 2-s2.0-0022619783 05/01/1986       103 Citations
  • Restriction maps and restriction fragment length polymorphisms of the human 21-hydroxylase genes. (Donohoue PA, Jospe N, Migeon CJ, McLean RH, Bias WB, White PC, Van Dop C) Biochem Biophys Res Commun 1986 Apr 29;136(2):722-9 PMID: 3010994 SCOPUS ID: 2-s2.0-0022448105 04/29/1986       28 Citations
  • Congenital adrenal hyperplasia: molecular mechanisms resulting in 21-hydroxylase deficiency. (Donohoue PA, Van Dop C, Jospe N, Migeon CJ) Acta Endocrinol Suppl (Copenh) 1986;279:315-20 PMID: 3022524 SCOPUS ID: 2-s2.0-0022968151 01/01/1986       10 Citations
    • Last update: 04/23/2026