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Congenital Anomalies and Abnormal Pubertal Development

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Abnormal Female Puberty

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Abstract

Primary amenorrhea in girls is a frequent cause for referrals to the endocrinologist or gynecologist. History and physical examination provide important data regarding the chronicity of other pubertal milestones. Laboratory determinations contribute to understanding the hormonal milieu of the individual. Imaging studies can augment the physical findings and offer a clearer understanding of the internal reproductive organs. Pelvic imaging is specifically valuable in distinguishing idiopathic or functional causes of primary amenorrhea from structural causes. Genetic testing may be useful as an adjunct to understanding structural defects associated with disorders of sex development. Congenital anomalies account for a significant number of cases of primary amenorrhea and must be considered in the differential diagnosis, particularly in girls presenting with otherwise normal pubertal progression. This chapter will provide a case-based approach to appreciate the complexities of primary amenorrhea associated with congenital anomalies of the reproductive tract.

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Abbreviations

17OHP:

17-Hydroxyprogesterone

AIS:

Androgen insensitivity

CAIS:

Complete androgen insensitivity

DHEAS:

DHEA-sulfate

DHT:

Dihydrotestosterone

DSD:

Disorders of sex development

FISH:

Fluorescence in situ hybridization

FSH:

Follicle-stimulating hormone

LH:

Luteinizing hormone

MDA:

Müllerian duct anomaly

MRKH:

Mayer–Rokitnsky–Küster–Hauser

PAIS:

Partial androgen insensitivity

SRY:

Sex determining region Y

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Authors and Affiliations

  1. Division of Pediatric and Adolescent Gynecology, Cohen Children’s Medical Center of NY/Long Island Jewish Medical Center, New Hyde Park, NY, 11040, USA

    Heather L. Appelbaum M.D.

  2. Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, 270-05, 76 th Ave, New Hyde Park, NY, 11020, USA

    Heather L. Appelbaum M.D.

  3. Obstetrics and Gynecology, Kaiser Permanente, 3779 Piedmont Avenue, Oakland, CA, 94611, USA

    Amy Vallerie M.D.

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  1. Heather L. Appelbaum M.D.
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Correspondence to Heather L. Appelbaum M.D. .

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Editors and Affiliations

  1. Department of Obstetrics and Gynecology, Hofstra Northwell School of Medicine, Manhasset, New York, USA

    Heather L. Appelbaum

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Appelbaum, H.L., Vallerie, A. (2016). Congenital Anomalies and Abnormal Pubertal Development. In: Appelbaum, H. (eds) Abnormal Female Puberty. Springer, Cham. https://doi.org/10.1007/978-3-319-27225-2_1

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  • DOI: https://doi.org/10.1007/978-3-319-27225-2_1

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